Detection of Charcot-Marie-Tooth type 1A duplication by the polymerase chain reaction.

Article

Detection of Charcot-Marie-Tooth type 1A duplication by the polymerase chain reaction.

Clinical chemistry - 1 Aug 1995

Blair I P, Kennerson M L, Nicholson G A

Abstract excerpt

Charcot-Marie-Tooth disease type 1A (CMT1A) is a hereditary peripheral neuropathy with a genetic locus on chromosome 17p11.2. The majority of patients carry a duplicated DNA segment that encompasses the gene PMP22, which encodes a peripheral myelin protein. PMP22 is the crucial gene involved in t...

Topics

Base Sequence
Charcot-Marie-Tooth Disease
Chromosomes, Human, Pair 17
DNA
Genetic Markers
Genotype
Humans
Molecular Sequence Data
Multigene Family
Myelin Proteins
Polymerase Chain Reaction
Repetitive Sequences, Nucleic Acid
Restriction Mapping

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