Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients-Reference-Cited by-同舟云学术

Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients

Published:2002-08-21 Issue:3 Volume:20 Page:180-188
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Arranz J.A.,Piñol F.,Kozak L.,Pérez-Cerdá C.,Cormand B.,Ugarte M.,Riudor E.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference18 articles.

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3. A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I;Grompe;N Engl J Med,1994

4. Tyrosinaemia type I and NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione);Holme;J Inherit Metab Dis,1998

5. Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I;Kim;J Inherit Metab Dis,2000

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