PUBLICACIÓN

Homozygous variant in TKFC abolishing triokinase activities is associated with isolated immunodeficiency

ACCEDER A LA PUBLICACIÓN: Scopus Orcid

Tremblay-Laganière C. et al.

2024 JOURNAL OF MEDICAL GENETICS

Genetics (Q1), Genetics (clinical) (Q1)

JCR: 3.7

SJR: 1.62

CITAS

1

DOI

10.1136/jmg-2024-109853

EID

2-s2.0-85192776716

ISSN

0022-2593

EISSN

1468-6244

BIBTEX

@article{Ribeiro2024,title = {Homozygous variant in TKFC abolishing triokinase activities is associated with isolated immunodeficiency},journal = {Journal of Medical Genetics},year = {2024},author = {Tremblay-Lagani{\`e}re, C. and Michaud, C. and Abourjaili-Bilodeau, R. and Cabezas, A. and Canales, J. and Costas, M.J. and Ribeiro, J.M. and Leclerc-Blain, J. and Touzot, F. and Haddad, E. and Teira, P. and Duval, M. and Onoufriadis, A. and Meunier, B. and Cameselle, J.C. and Campeau, P.M.}}

AUTORES DE LA UEX

Juan Nuno Meireles Da Silva Gonçalves Ribeiro
Alicia Cabezas Martín

OTRAS PUBLICACIONES DE INTERÉS

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Homozygous Variant In Tkfc Abolishing Triokinase Activities Is Associated With Isolated Immunodeficiency
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Homozygous Variant In Tkfc Abolishing Triokinase Activities Is Associated With Isolated Immunodeficiency
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Homozygous Variant In Tkfc Abolishing Triokinase Activities Is Associated With Isolated Immunodeficiency
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Methanol Esterification Reactions Catalyzed By Snake Venom And Bovine Intestinal 5′‐nucleotide Phosphodiesterases: Formation Of Nucleoside 5′‐monophosphate Methyl Esters From Guanosine 5′‐triphosphate And Other Nucleoside 5′‐polyphosphates
Particulate Diadenosine 5′,5‴-P1,p3-Triphosphate Hydrolases In Rat Brain: Two Specific Dinucleoside Triphosphatases And Two Phosphodiesterase I-Like Hydrolases
Methanol Esterification Reactions Catalyzed By Snake Venom And Bovine Intestinal 5′‐nucleotide Phosphodiesterases: Formation Of Nucleoside 5′‐monophosphate Methyl Esters From Guanosine 5′‐triphosphate And Other Nucleoside 5′‐polyphosphates
Particulate Diadenosine 5′,5‴-P1,p3-Triphosphate Hydrolases In Rat Brain: Two Specific Dinucleoside Triphosphatases And Two Phosphodiesterase I-Like Hydrolases
Purification To Homogeneity Of Rat Liver Dinucleoside Tetraphosphatase By Affinity Elution With Adenosine 5′-Tetraphosphate
Particulate Diadenosine 5′,5‴-P1,p3-Triphosphate Hydrolases In Rat Brain: Two Specific Dinucleoside Triphosphatases And Two Phosphodiesterase I-Like Hydrolases
Purification To Homogeneity Of Rat Liver Dinucleoside Tetraphosphatase By Affinity Elution With Adenosine 5′-Tetraphosphate
Theoretical Isoelectric Points And Electric Charges Of Mutated Human Hemoglobin Subunits
Purification To Homogeneity Of Rat Liver Dinucleoside Tetraphosphatase By Affinity Elution With Adenosine 5′-Tetraphosphate
Theoretical Isoelectric Points And Electric Charges Of Mutated Human Hemoglobin Subunits
A Low Km Nucleoside 3′(2′),5′-Biphosphate 3′(2′)-Phosphophydrolase From Rat Liver
Theoretical Isoelectric Points And Electric Charges Of Mutated Human Hemoglobin Subunits
A Low Km Nucleoside 3′(2′),5′-Biphosphate 3′(2′)-Phosphophydrolase From Rat Liver
Computer Program For The Reservoir Model Of Metabolic Crossroads
A Low Km Nucleoside 3′(2′),5′-Biphosphate 3′(2′)-Phosphophydrolase From Rat Liver
Computer Program For The Reservoir Model Of Metabolic Crossroads
An Algorithm For The Computer Calculation Of The Coefficients Of A Polynomial That Allows Determination Of Isoelectric Points Of Proteins And Other Macromolecules
Computer Program For The Reservoir Model Of Metabolic Crossroads
An Algorithm For The Computer Calculation Of The Coefficients Of A Polynomial That Allows Determination Of Isoelectric Points Of Proteins And Other Macromolecules
A Specific, Low Km Adp-Ribose Pyrophosphatase From Rat Liver
An Algorithm For The Computer Calculation Of The Coefficients Of A Polynomial That Allows Determination Of Isoelectric Points Of Proteins And Other Macromolecules
A Specific, Low Km Adp-Ribose Pyrophosphatase From Rat Liver
Phosphoglycerate Kinase From Yeast Synthesizes Guanosine 5'-Tetraphosphate
A Specific, Low Km Adp-Ribose Pyrophosphatase From Rat Liver
Phosphoglycerate Kinase From Yeast Synthesizes Guanosine 5'-Tetraphosphate
Hydrolysis Of Bis(5'-Nucleosidyl) Polyphosphates By Escherichia Coli 5'-Nucleotidase
Phosphoglycerate Kinase From Yeast Synthesizes Guanosine 5'-Tetraphosphate
Hydrolysis Of Bis(5'-Nucleosidyl) Polyphosphates By Escherichia Coli 5'-Nucleotidase
Isoelectric Points Of Proteins: Theoretical Determination
Hydrolysis Of Bis(5'-Nucleosidyl) Polyphosphates By Escherichia Coli 5'-Nucleotidase
Isoelectric Points Of Proteins: Theoretical Determination
Characterization Of The Interferon- And Virus-Inducible Mx Promoter
Isoelectric Points Of Proteins: Theoretical Determination
Characterization Of The Interferon- And Virus-Inducible Mx Promoter
Organization Of The Murine Mx Gene And Characterization Of Its Interferon- And Virus-Inducible Promoter
Characterization Of The Interferon- And Virus-Inducible Mx Promoter
Organization Of The Murine Mx Gene And Characterization Of Its Interferon- And Virus-Inducible Promoter
The Inhibition Of Fructose 1,6-Bisphosphatase By Fructose 2,6-Biphosphate Is Enhanced By Edta And Diminished By Zinc(Ii)
Organization Of The Murine Mx Gene And Characterization Of Its Interferon- And Virus-Inducible Promoter
The Inhibition Of Fructose 1,6-Bisphosphatase By Fructose 2,6-Biphosphate Is Enhanced By Edta And Diminished By Zinc(Ii)
Binding Of Zinc(Ii) To Β-D-Fructose 2,6-Bisphosphate
The Inhibition Of Fructose 1,6-Bisphosphatase By Fructose 2,6-Biphosphate Is Enhanced By Edta And Diminished By Zinc(Ii)
Binding Of Zinc(Ii) To Β-D-Fructose 2,6-Bisphosphate
Derivation And Use Of A Formula To Calculate The Net Charge Of Acid-Base Compounds. Its Application To Amino Acids, Proteins And Nucleotides
Binding Of Zinc(Ii) To Β-D-Fructose 2,6-Bisphosphate
Derivation And Use Of A Formula To Calculate The Net Charge Of Acid-Base Compounds. Its Application To Amino Acids, Proteins And Nucleotides
Mitochondrial Location Of Rat Liver Dinucleoside Triphosphatase
Derivation And Use Of A Formula To Calculate The Net Charge Of Acid-Base Compounds. Its Application To Amino Acids, Proteins And Nucleotides
Mitochondrial Location Of Rat Liver Dinucleoside Triphosphatase
Occurrence Of Dinucleosidetriphosphatase In The Cytosol And Particulate Fractions From Rat Liver
Mitochondrial Location Of Rat Liver Dinucleoside Triphosphatase
Occurrence Of Dinucleosidetriphosphatase In The Cytosol And Particulate Fractions From Rat Liver
Dinucleosidetriphosphatase From Rat Brain
Occurrence Of Dinucleosidetriphosphatase In The Cytosol And Particulate Fractions From Rat Liver
Dinucleosidetriphosphatase From Rat Brain
Diadenosine Tetraphosphate Activates Amp Deaminase From Rat Muscle
Dinucleosidetriphosphatase From Rat Brain
Diadenosine Tetraphosphate Activates Amp Deaminase From Rat Muscle
Two Low K(M) Hydrolytic Activities On Dinucleoside 5',5'''-P1,p4-Tetraphosphates In Rat Liver. Characterization As The Specific Dinucleoside Tetraphosphatase And A Phosphodiesterase I-Like Enzyme
Diadenosine Tetraphosphate Activates Amp Deaminase From Rat Muscle
Two Low K(M) Hydrolytic Activities On Dinucleoside 5',5'''-P1,p4-Tetraphosphates In Rat Liver. Characterization As The Specific Dinucleoside Tetraphosphatase And A Phosphodiesterase I-Like Enzyme
Presence Of Cytidine 5′-Tetraphosphate In Commercial Samples Of Cytidine 5′-Triphosphate
Two Low K(M) Hydrolytic Activities On Dinucleoside 5',5'''-P1,p4-Tetraphosphates In Rat Liver. Characterization As The Specific Dinucleoside Tetraphosphatase And A Phosphodiesterase I-Like Enzyme
Presence Of Cytidine 5′-Tetraphosphate In Commercial Samples Of Cytidine 5′-Triphosphate
Dinucleosidetetraphosphatase Inhibition By Zn(Ii)
Presence Of Cytidine 5′-Tetraphosphate In Commercial Samples Of Cytidine 5′-Triphosphate
Dinucleosidetetraphosphatase Inhibition By Zn(Ii)
A Cut-Out Model Of The Α-Helix For Student Use
Dinucleosidetetraphosphatase Inhibition By Zn(Ii)
A Cut-Out Model Of The Α-Helix For Student Use
Bis-(5'-Guanosyl) Tetraphosphatase In Rat Tissues.
A Cut-Out Model Of The Α-Helix For Student Use
Bis-(5'-Guanosyl) Tetraphosphatase In Rat Tissues.
Distribución Y Propiedades De La Dinucleosidotetrafosfatosa En Diversos Tejidos De Rata
Bis-(5'-Guanosyl) Tetraphosphatase In Rat Tissues.
Distribución Y Propiedades De La Dinucleosidotetrafosfatosa En Diversos Tejidos De Rata
The Regulation Of Glycolysis In The Hepatopancreas Of The Sea Mussel Mytilus Edulis L.
Distribución Y Propiedades De La Dinucleosidotetrafosfatosa En Diversos Tejidos De Rata
The Regulation Of Glycolysis In The Hepatopancreas Of The Sea Mussel Mytilus Edulis L.
Free Amino Acids Accelerate The Time-Dependent Inactivation Of Rat Liver Nucleotide Pyrophosphatase/phosphodiesterase Enpp3 Elicited By Edta: Free Amino Acids Accelerate The Time-Dependent Inactivation..: A. Romero Et Al.
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