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
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