The somatic FAH C.1061C>A change counteracts the frequent FAH c.1062+5G>A mutation and permits U1snRNA-based splicing correction-Reference-Cited by-同舟云学术

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The somatic FAH C.1061C>A change counteracts the frequent FAH c.1062+5G>A mutation and permits U1snRNA-based splicing correction

Published:2018-03-01 Issue:5 Volume:63 Page:683-686
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Scalet Daniela,Sacchetto Claudia,Bernardi Francesco,Pinotti Mirko,van de Graaf Stan F. J.,Balestra Dario

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/s10038-018-0427-x.pdf

Reference15 articles.

1. Lindblad B, Lindstedt S, Steen G. On the enzymic defects in hereditary tyrosinemia. Proc Natl Acad Sci USA. 1977;74:4641–5.

2. Grompe M, St-Louis M, Demers SI, al-Dhalimy M, Leclerc B, Tanguay RM. A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I. N Engl J Med. 1994;331:353–7.

3. Rootwelt H, Kristensen T, Berger R, Høie K, Kvittingen EA. Tyrosinemia type 1—complex splicing defects and a missense mutation in the fumarylacetoacetase gene. Hum Genet. 1994;94:235–9.

4. Pérez-Carro R, Sánchez-Alcudia R, Pérez B, Navarrete R, Pérez-Cerdá C, Ugarte M, Desviat LR. Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type I. Clin Genet. 2014;86:167–71.

5. Bliksrud YT, Brodtkorb E, Andresen PA, van den Berg IE, Kvittingen EA. Tyrosinaemia type I—de novo mutation in liver tissue suppressing an inborn splicing defect. J Mol Med. 2005;83:406–10.

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