Absence of PMP22 coding region mutations in CMT1A duplication patients: further evidence supporting gene dosage as a mechanism for Charcot-Marie-Tooth disease type 1A.
Warner
L E
LE
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
Roa
B B
BB
Lupski
J R
JR
D002607:Charcot-Marie-Tooth Disease / Q000145:classification / Q000235:genetics*; D005260:Female; D018628:Gene Dosage; D006801:Humans; D008297:Male; D009154:Mutation; D009185:Myelin Proteins / Q000235:genetics*; D010375:Pedigree
D009185:Myelin Proteins; C073687:PMP22 protein, human