Raza, Syed Irfan

A novel homozygous nonsense mutation in the PVRL4 gene and expansion of clinical spectrum of EDSS1. [electronic resource] - Annals of human genetics Mar 2015 - 92-8 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1469-1809

10.1111/ahg.12094 doi


Adult
Cell Adhesion Molecules--genetics
Codon, Nonsense
Consanguinity
DNA Mutational Analysis
Ectodermal Dysplasia--genetics
Female
Humans
Male
Pakistan
Syndactyly--genetics