Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.

Weedon, Michael N

Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. [electronic resource] - American journal of human genetics Aug 2011 - 308-12 p. digital

Publication Type: Journal Article

1537-6605

10.1016/j.ajhg.2011.07.002 doi


Adult
Animals
Axons--pathology
Charcot-Marie-Tooth Disease--genetics
Child, Preschool
Cytoplasmic Dyneins--genetics
DNA Mutational Analysis
Exons--genetics
Female
Genes, Dominant--genetics
Humans
Male
Mice
Mutation--genetics
Pedigree
Young Adult