Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease

Human Molecular Genetics

Volumn 15, Issue 14, 2006, Pages 2250-2265

  Lee, Jennifer A ^a   Inoue, Ken ^b   Cheung, Sau W ^a   Shaw, Chad A ^a   Stankiewicz, Pawel ^a   Lupski, James R ^a,c  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^c TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEOLIPID PROTEIN;

ARTICLE; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DUPLICATION; GENE PROBE; GENE REARRANGEMENT; GENE STRUCTURE; GENETIC DISORDER; GENETIC RECOMBINATION; GENOME ANALYSIS; HUMAN; PELIZAEUS MERZBACHER DISEASE; PRIORITY JOURNAL; PULSED FIELD GEL ELECTROPHORESIS;

BASE SEQUENCE; CHROMOSOME BREAKAGE; COHORT STUDIES; FEMALE; GENE DOSAGE; GENE DUPLICATION; GENE REARRANGEMENT; GENOME, HUMAN; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MEMBRANE PROTEINS; MODELS, GENETIC; MYELIN PROTEOLIPID PROTEIN; PEDIGREE; PELIZAEUS-MERZBACHER DISEASE; RECOMBINATION, GENETIC; TERMINAL REPEAT SEQUENCES;

EID: 33745619547     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddl150     Document Type: Article

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