Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis. [electronic resource]
- Journal of medical genetics Dec 2012
- 727-30 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1468-6244
10.1136/jmedgenet-2012-101134 doi
Adaptor Proteins, Signal Transducing--genetics Base Sequence DNA Mutational Analysis Exome Female Genotype Humans Hypotrichosis--congenital Male Mutation, Missense Pedigree