Allelic variants in the 5' non-coding region of the connexin32 gene: possible pitfalls in the diagnosis of X linked Charcot-Marie-Tooth neuropathy (CMTX).
Institut für Humangenetik, Universitätsklinikum der RWTH Aachen, Germany. cbergmann@ukaachen.de
C
C
Bergmann
K
K
Zerres
S
S
Rudnik-Schöneborn
T
T
Eggermann
J M
JM
Schröder
J
J
Senderek
D024506:5' Flanking Region / Q000235:genetics*; D000483:Alleles; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000235:genetics*; D015331:Cohort Studies; D017630:Connexins / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D008040:Genetic Linkage; D014644:Genetic Variation; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D011401:Promoter Regions, Genetic / Q000235:genetics; D014960:X Chromosome / Q000235:genetics*; D000097002:Gap Junction beta-1 Protein
D017630:Connexins; D004247:DNA; D000097002:Gap Junction beta-1 Protein