Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family
Joint Authors
Ankleshwaria, Chitra M.
Sheth, Jayesh J.
Sheth, Frenny J.
Pawar, Rajeshwari
Source
Issue
Vol. 2012, Issue 2012 (31 Dec. 2012), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2012-10-30
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
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 mutation as “benign” that creates a potential donor splice site and later one as “probably damaging” which disrupts secondary structure of protein.
American Psychological Association (APA)
Sheth, Jayesh J.& Ankleshwaria, Chitra M.& Pawar, Rajeshwari& Sheth, Frenny J.. 2012. Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family. Case Reports in Genetics،Vol. 2012, no. 2012, pp.1-4.
https://search.emarefa.net/detail/BIM-471434
Modern Language Association (MLA)
Sheth, Jayesh J.…[et al.]. Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family. Case Reports in Genetics No. 2012 (2012), pp.1-4.
https://search.emarefa.net/detail/BIM-471434
American Medical Association (AMA)
Sheth, Jayesh J.& Ankleshwaria, Chitra M.& Pawar, Rajeshwari& Sheth, Frenny J.. Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family. Case Reports in Genetics. 2012. Vol. 2012, no. 2012, pp.1-4.
https://search.emarefa.net/detail/BIM-471434
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-471434