Molecular characterization of phenylketonuric mutations in Japanese by analysis of phenylalanine hydroxylase mRNA from lymphoblasts-Reference-Cited by-同舟云学术

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Molecular characterization of phenylketonuric mutations in Japanese by analysis of phenylalanine hydroxylase mRNA from lymphoblasts

Published:1994 Issue:4 Volume:3 Page:659-660
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:Hum Mol Genet

Author:

Okano Yoshlyuki,Hase Yutaka,Shintaku Haruo,Arakl Kumlko,Furuyama Jun-lchl,Oura Toshiakl,Isshlkl Gen

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/3/4/659/2641888/3-4-659.pdf

Cited by 24 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. Emphasis on the importance of comprehensive clinical and genetic analysis – spinal muscular atrophy combined with phenylketonuria: A case report;Medicine;2024-08-02

2. Real-world evidence: Risdiplam in a patient with spinal muscular atrophy type I with a novel splicing mutation and one SMN2 copy;Human Molecular Genetics;2024-03-23

3. Genetic etiology and clinical challenges of phenylketonuria;Human Genomics;2022-07-19

4. Identification of novel deep intronic PAH gene variants in patients diagnosed with phenylketonuria;Human Mutation;2021-11-16

5. Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria;Molecular Genetics and Metabolism;2018-09

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