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

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 prog...

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Detalles Bibliográficos
Autores principales: Sheth, Jayesh J., Ankleshwaria, Chitra M., Pawar, Rajeshwari, Sheth, Frenny J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3502793/
https://www.ncbi.nlm.nih.gov/pubmed/23193487
http://dx.doi.org/10.1155/2012/428075

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3502793/
https://www.ncbi.nlm.nih.gov/pubmed/23193487
http://dx.doi.org/10.1155/2012/428075

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