IIlegitimate transcription of the phenylalanine hydroxylase gene in lymphocytes for identification of mutations in phenylketonuria-Reference-Cited by-同舟云学术

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IIlegitimate transcription of the phenylalanine hydroxylase gene in lymphocytes for identification of mutations in phenylketonuria

Published:1993 Issue:1 Volume:2 Page:31-34
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:Hum Mol Genet

Author:

Abadie V.,Jaruzelska J.,Lyonnet S.,Millasseau P.,Berthelon M.,Rey F.,Munnich A.,Rey J.

Publisher

Oxford University Press (OUP)

Subject

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

Link

http://academic.oup.com/hmg/article-pdf/2/1/31/1544006/2-1-31.pdf

Cited by 22 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 pathogenicity classification of PAH gene variants in the Iranian population;Computational Biology and Chemistry;2022-06

2. A Simple Network to Remove Interference in Surface EMG Signal from Single Gene Affected Phenylketonuria Patients for Proper Diagnosis;Journal of The Institution of Engineers (India): Series B;2018-01-11

3. A novel common large genomic deletion and two new missense mutations identified in the Romanian phenylketonuria population;Gene;2016-01

4. Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal Dystrophies;JAMA Ophthalmology;2015-05-01

5. Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: Molecular pathology of mutations in PAH exon 11;Molecular Genetics and Metabolism;2012-08

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