Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females

American Journal of Human Genetics

Volumn 71, Issue 4, 2002, Pages 838-853

  Inoue, Ken ^a,b   Osaka, Hitoshi ^b   Thurston, Virginia C ^a   Clarke, Joe T R ^a   Yoneyama, Akira ^c   Rosenbarker, Lisa ^d   Bird, Thomas D ^e   Modes, M E ^f   Shaffer, Lisa G ^g   Lupski, James R ^a  

^a Department of Molecular and Human Genetics ^*  (Japan)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

^d National Rehabilitation Center for the Disabled   (Japan)

^e INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f HOSPITAL FOR SICK CHILDREN   (Canada)

^g UNIVERSITY OF WASHINGTON   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

LIPOPROTEIN; MEMBRANE PROTEIN; PLP1 PROTEIN, HUMAN; PROTEOLIPID PROTEIN;

ARTICLE; CASE REPORT; CHILD; FEMALE; GENE DELETION; GENE EXPRESSION REGULATION; GENE REARRANGEMENT; GENE TRANSLOCATION; GENETICS; HUMAN; MALE; MEIOSIS; MOLECULAR CLONING; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PEDIGREE; PELIZAEUS MERZBACHER DISEASE; PHENOTYPE; SEQUENCE HOMOLOGY;

BASE SEQUENCE; CHILD; CLONING, MOLECULAR; DOSAGE COMPENSATION, GENETIC; FEMALE; GENE DELETION; GENE REARRANGEMENT; HUMANS; LIPOPROTEINS; MALE; MEIOSIS; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MYELIN PROTEOLIPID PROTEIN; PEDIGREE; PELIZAEUS-MERZBACHER DISEASE; PHENOTYPE; SEQUENCE HOMOLOGY, NUCLEIC ACID; TRANSLOCATION, GENETIC;

EID: 19044366773     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/342728     Document Type: Article

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