Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Pawar, Rajeshwari"'
Publikováno v:
Annals of Saudi Medicine, Vol 25, Iss 2, Pp 161-164 (2005)
Externí odkaz:
https://doaj.org/article/e656fbc94bfa4969803b7cdea7df9bf1
Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family
Publikováno v:
Case Reports in Genetics.
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, respect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=hindawi_publ::5e32998826f13a9f7029828c463385ff
Publikováno v:
Journal of Mid-life Health; Jan-Jun2010, Vol. 1 Issue 1, p19-22, 4p, 5 Charts