Literature DB >> 7833954

Five novel missense mutations of the phenylalanine hydroxylase gene in phenylketonuria.

P Bénit1, F Rey, D Melle, A Munnich, J Rey.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1994        PMID： 7833954     DOI： 10.1002/humu.1380040311

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


× No keyword cloud information.
  2 in total

1.  Connecting mutant phenylalanine hydroxylase with phenylketonuria.

Authors:  Shaomin Yan; Guang Wu
Journal:  J Clin Monit Comput       Date:  2008-09-05       Impact factor: 2.502

2.  Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations.

Authors:  E Kayaalp; E Treacy; P J Waters; S Byck; P Nowacki; C R Scriver
Journal:  Am J Hum Genet       Date:  1997-12       Impact factor: 11.025
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.