Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family

Abstract

Carrier of tyrosinemia type I was diagnosed by sequencing FAH (fumarylacetoacetate hydrolase) gene. It leads to the identification of heterozygous status for both c.648C>G (p.Ile216Met) and c.1159G>A (p.Gly387Arg) mutations in exons 8 and 13, respectively, in the parents. The experimental program PolyPhen, SIFT, and MT predicts former missense point… (More)
DOI: 10.1155/2012/428075

Topics

3 Figures and Tables

Cite this paper

@inproceedings{Sheth2012IdentificationON, title={Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family}, author={Jayesh J. Sheth and Chitra M. Ankleshwaria and Rajeshwari Pawar and Frenny Sheth}, booktitle={Case reports in genetics}, year={2012} }