Asymptomatic and late-onset ornithine transcarbamylase (OTC) deficiency in males of a five-generation family, caused by an A208T mutation-Reference-Cited by-同舟云学术

Asymptomatic and late-onset ornithine transcarbamylase (OTC) deficiency in males of a five-generation family, caused by an A208T mutation

Published:2008-06-28 Issue:5 Volume:50 Page:310-316
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Diggelen O.P.,Zaremba J.,He Wang,Keulemans J. L. M.,Boer A. M.,Reuser A. J. J.,Ausems M. G. E. M.,Smeitink J. A. M.,Kowalczyk J.,Pronicka E.,Rokicki D.,Tarnowska-Dziduszko E.,Kneppers A. L. J.,Bakker E.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1996.tb02380.x/fullpdf

Reference24 articles.

1. Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: clinical, biochemical and DNA analyses in a four-generation family;Ausems;Am J Med Genet,1996

2. Asymptomatic and late-onset ornithine transcarbamylase deficiency (OTCD) caused by a A208T mutation;Bakker;Am J Hum Genet,1995

3. Identification of RNA splicing errors resulting in human ornithine transcarbamylase deficiency;Carstens;Am J Hum Genet,1991

4. Immunochemical analysis of 19 ornithine transcarbamoylase deficiencies;Cavard;Enzyme,1988

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1. In-depth analysis of OTC A208T case induced by OTC gene mutation and research on the prediction and simulation of the impact on protein function;Frontiers in Pediatrics;2024-09-12

2. Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease;Orphanet Journal of Rare Diseases;2024-01-02

3. Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease;2023-07-20

4. The functional impact of 1,570 individual amino acid substitutions in human OTC;The American Journal of Human Genetics;2023-05

5. The functional impact of 1,570 SNP-accessible missense variants in humanOTC;2022-10-26