Splice-site contribution in alternative splicing of PLP1 and DM20: Molecular studies in oligodendrocytes

Human Mutation

Volumn 27, Issue 1, 2006, Pages 69-77

  Hobson, Grace M ^a   Huang, Zhong ^b   Sperle, Karen ^a   Sistermans, Erik ^c   Rogan, Peter K ^d   Garbern, James Y ^e   Kolodny, Edwin ^f   Naidu, Sakkubai ^g   Cambi, Franca ^h  

^a NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^b THOMAS JEFFERSON UNIVERSITY   (United States)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d CHILDREN S MERCY HOSPITAL   (United States)

^e WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f NEW YORK UNIVERSITY MEDICAL CENTER   (United States)

^g JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h UNIVERSITY OF KENTUCKY   (United States)

Author keywords

Alternative splicing; Genotype phenotype; Information theory; Pelizaeus Merzbacher disease; PLP1; Proteolipid protein 1 gene

Indexed keywords

MESSENGER RNA; MYELIN; PROTEOLIPID PROTEIN; PROTEOLIPID PROTEIN 1; UNCLASSIFIED DRUG;

ALTERNATIVE RNA SPLICING; ARTICLE; CODON; CONTROLLED STUDY; DISEASE SEVERITY; GENE; GENE MUTATION; GENETIC DATABASE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN CELL; MYELIN DEFICIENCY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; OLIGODENDROGLIA; PELIZAEUS MERZBACHER DISEASE; PLP1 GENE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SKIN FIBROBLAST; SPASTIC PARAPLEGIA; X CHROMOSOME LINKED DISORDER;

ALTERNATIVE SPLICING; ANIMALS; CELLS, CULTURED; EXONS; FIBROBLASTS; HUMANS; INFORMATION THEORY; MEMBRANE PROTEINS; MUTATION; MYELIN PROTEOLIPID PROTEIN; OLIGODENDROGLIA; PHENOTYPE; RATS; RATS, SPRAGUE-DAWLEY; RNA SPLICE SITES; RNA, MESSENGER; SKIN;

EID: 29944434372     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20276     Document Type: Article

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