Relationship between Mutation Genotype and Biochemical Phenotype in a Heterogeneous Spanish Phenylketonuria Population-Reference-Cited by-同舟云学术

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Relationship between Mutation Genotype and Biochemical Phenotype in a Heterogeneous Spanish Phenylketonuria Population

Published:1997 Issue:4 Volume:5 Page:196-202
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Desviat L.R.,Pérez B.,García M. J.,Martínez-Pardo M.,Baldellou A.,Arena J.,Sanjurjo P.,Campistol J.,Couce M.L.,Fernández A.,Cardesa J.,Ugarte M.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Cited by 20 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria;Genetics in Medicine;2019-03

2. Mutations of the phenylalanine hydroxylase gene in Iranian patients with phenylketonuria;SpringerPlus;2015-09-23

3. Computational study of missense mutations in phenylalanine hydroxylase;Journal of Molecular Modeling;2015-03-07

4. Molecular epidemiology and genotype–phenotype correlation in phenylketonuria patients from South Spain;Journal of Human Genetics;2013-03-21

5. Tratamiento y control de los pacientes con fenilcetonuria: resultados del Grupo Colaborativo de Unidades de Seguimiento en España;Medicina Clínica;2012-03

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