Phenylketonuria in China: Identification and characterization of three novel nucleotide substitutions in the human phenylalanine hydroxylase gene-Reference-Cited by-同舟云学术

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Phenylketonuria in China: Identification and characterization of three novel nucleotide substitutions in the human phenylalanine hydroxylase gene

Published:1994 Issue:3 Volume:3 Page:312-314
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Li Jia,Eisensmith Randy C.,Wang Tao,Lo Wilson H. Y.,Huang Shu-Zhen,Zeng Yi-Tao,Yuan Li-Fang,Liu Shen-Ru,Woo Savio L. C.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference15 articles.

1. SCREENING FOR PHENYLKETONURIA MUTATIONS BY DNA AMPLIFICATION WITH THE POLYMERASE CHAIN REACTION

2. Molecular basis of phenylketonuria and related hyperphenylalaninemias: Mutations and polymorphisms in the human phenylalanine hydroxylase gene

3. A single polymorphic STR system in the human phenylalanine hydroxylase gene permits rapid prenatal diagnosis and carrier screening for phenylketonuria

4. Gaucher disease: Four rare alleles encoding F213I, P289L, T323I, and R463C in type 1 variants

Cited by 2 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. The Structural Basis of Phenylketonuria;Molecular Genetics and Metabolism;1999-10

2. 6 Molecular Genetics of Phenylketonuria: From Molecular Anthropology to Gene Therapy;Advances in Genetics;1995

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