Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis.
Zhang, Xin
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
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