Phenylketonuria: Genotype-phenotype correlations based on expression analysis of structural and functional mutations inPAH-Reference-Cited by-同舟云学术

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Phenylketonuria: Genotype-phenotype correlations based on expression analysis of structural and functional mutations inPAH

Published:2003-03-19 Issue:4 Volume:21 Page:370-378
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Pey Angel L.,Desviat Lourdes R.,Gámez Alejandra,Ugarte Magdalena,Pérez Belén

Funder

‘Fundación Ramón Areces’ grant to the Centro de Biología Molecular “Severo Ochoa”

Comisión Interministerial de Ciencia y Tecnología

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference28 articles.

1. The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?;Andresen;Hum Mol Genet,1997

2. Effects of two mutations detected in medium chain acyl-CoA dehydrogenase (MCAD)-deficient patients on folding, oligomer assembly and stability of MCAD enzyme;Bross;J Biol Chem,1995

3. Relationship between mutation genotype and biochemical phenotype in a heterogeneous Spanish phenylketonuria population;Desviat;Eur J Hum Genet,1997

4. Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions;Desviat;Eur J Hum Gen,1999

5. Aberrant splicing of phenylalanine hydroxylase mRNA: the major cause for Phenylketonuria in parts of Southern Europe;Dworniczak;Genomics,1991

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1. PAH deficient pathology in humanized c.1066-11G>A phenylketonuria mice;Human Molecular Genetics;2024-03-23

2. Analysis of gene variation and long-term follow-up in children with phenylalanine hydroxylase deficiency diagnosed by newborn screening;Journal of Zhejiang University (Medical Sciences);2023-12-01

3. PAH DEFICIENT PATHOLOGY IN HUMANIZED c.1066-11G>A PHENYLKETONURIA MICE;2023-11-05

4. Deep Intronic PAH Variants Explain Missing Heritability in Hyperphenylalaninemia;The Journal of Molecular Diagnostics;2023-05

5. Allelic phenotype prediction of phenylketonuria based on the machine learning method;Human Genomics;2023-03-31

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