Four novel mutations of the connexin 32 gene in four Japanese families with Charcot-Marie-Tooth disease type 1

American Journal of Medical Genetics

Volumn 80, Issue 4, 1998, Pages 352-355

  Ikegami, Tohru ^a   Lin, Changqing ^a   Kato, Mitsuhiro ^a   Itoh, Aiko ^a   Nonaka, Ikuya ^b   Kurimura, Masayuki ^a   Hirayabashi, Hisayuki ^c   Shinohara, Yukito ^c   Mochizuki, Atsuko ^d   Hayasak, Kiyoshi ^a  

^a YAMAGATA UNIVERSITY   (Japan)

^b NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^c TOKAI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d TEIKYO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Connexin 32; Mutation; X linked Charcot Marie Tooth disease

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHROMOSOME 17P; CLINICAL ARTICLE; FEMALE; GENE LOCATION; GENE MUTATION; GENETIC ANALYSIS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; X CHROMOSOME LINKAGE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; CHARCOT-MARIE-TOOTH DISEASE; CONNEXINS; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; GENES; HUMANS; JAPAN; MALE; PEDIGREE; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 0031740940     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19981204)80:4<352::AID-AJMG9>3.0.CO;2-R     Document Type: Article

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