Tyrosinemia type 1 ? complex splicing defects and a missense mutation in the fumarylacetoacetase gene-Reference-Cited by-同舟云学术

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Tyrosinemia type 1 ? complex splicing defects and a missense mutation in the fumarylacetoacetase gene

Published:1994-09 Issue:3 Volume:94 Page:
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Rootwelt Helge,Kristensen Tom,Berger Ruud,H�ie Kari,Kvittingen EliAnne

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/BF00208276.pdf

Cited by 18 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. Genetic Analysis of Tyrosinemia Type 1 and Fructose-1, 6 Bisphosphatase Deficiency Affected in Pakistani Cohorts;Fetal and Pediatric Pathology;2019-10-04

2. The somatic FAH C.1061C>A change counteracts the frequent FAH c.1062+5G>A mutation and permits U1snRNA-based splicing correction;Journal of Human Genetics;2018-03-01

3. Molecular Aspects of the FAH Mutations Involved in HT1 Disease;Advances in Experimental Medicine and Biology;2017

4. Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1;JIMD Reports;2014

5. Hepatorenal Tyrosinemia;Genetic Diseases of the Kidney;2009

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