Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: Molecular mechanism and phenotypic manifestations

Annals of Neurology

Volumn 45, Issue 5, 1999, Pages 624-632

  Inoue, Ken ^a,b   Osaka, Hitoshi ^b   Imaizumi, Kiyoshi ^c   Nezu, Atsuo ^b   Takanashi, Jun ichi ^d   Arii, Junko ^e   Murayama, Keiko ^f   Ono, Jiro ^g   Kikawa, Yoshiharu ^h   Mito, Takashi ⁱ   Shaffer, Lisa G ^a   Lupski, James R ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b YOKOHAMA CITY UNIVERSITY   (Japan)

^c KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^d CHIBA UNIVERSITY   (Japan)

^e CHIBA CHILDREN'S HOSPITAL   (Japan)

^f National Rehabilitation Center for the Disabled   (Japan)

^g OSAKA UNIVERSITY MEDICAL SCHOOL   (Japan)

^h UNIVERSITY OF FUKUI   (Japan)

ⁱ Kasai City Hospital   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEOLIPID PROTEIN;

ADULT; ARTICLE; CHILD; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FRAMESHIFT MUTATION; GENE DUPLICATION; GENETIC SCREENING; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MOLECULAR DYNAMICS; PELIZAEUS MERZBACHER DISEASE; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN POLYMORPHISM;

ADOLESCENT; ALLELES; CHILD; CHILD, PRESCHOOL; CHROMOSOME MAPPING; DIFFUSE CEREBRAL SCLEROSIS OF SCHILDER; FEMALE; GENE DUPLICATION; HAPLOTYPES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MYELIN PROTEOLIPID PROTEIN; PHENOTYPE;

EID: 0032957881     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/1531-8249(199905)45:5<624::AID-ANA11>3.0.CO;2-1     Document Type: Article

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