Hereditary neuropathy with liability to pressure palsies: two cases with a reciprocal translocation t(16;17)(q12;11.2) interrupting the PMP22 gene.
Nadal
M
M
Valiente
A
A
Domènech
A
A
Pritchard
M
M
Estivill
X
X
Ramos-Arroyo
M A
MA
D002885:Chromosomes, Human, Pair 16; D002886:Chromosomes, Human, Pair 17; D020732:Cytogenetic Analysis; D005260:Female; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D009185:Myelin Proteins / Q000235:genetics*; D010375:Pedigree; D014178:Translocation, Genetic
D009185:Myelin Proteins; C073687:PMP22 protein, human