Gonzaga-Jauregui, Claudia

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. [electronic resource] - Cell reports Aug 2015 - 1169-83 p. digital

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

2211-1247

10.1016/j.celrep.2015.07.023 doi


Animals
Charcot-Marie-Tooth Disease--genetics
Exome
Female
Genetic Load
Genetic Variation
HSP40 Heat-Shock Proteins--genetics
Humans
Male
Mutation
Myelin P2 Protein--genetics
Pedigree
Penetrance
Peripheral Nervous System Diseases--genetics
Phenotype
Serine C-Palmitoyltransferase--genetics
Suppression, Genetic
Zebrafish