PMD patient mutations reveal a long-distance intronic interaction that regulates PLP1/DM20 alternative splicing

Human molecular genetics

Volumn 23, Issue 20, 2014, Pages 5464-5478

  Taube, Jennifer R ^a   Sperle, Karen ^a   Banser, Linda ^a   Seeman, Pavel ^a   Cavan, Barbra C harina V ^a   Garbern, James Y ^a   Hobson, Grace M ^a  

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

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; PLP1 PROTEIN, HUMAN; PROTEOLIPID PROTEIN;

ALTERNATIVE RNA SPLICING; BASE PAIRING; CELL LINE; CHEMICAL STRUCTURE; CHEMISTRY; CONFORMATION; DNA SEQUENCE; FEMALE; GENETICS; HUMAN; INTRON; MALE; METABOLISM; MUTATION; OLIGODENDROGLIA; PEDIGREE; PELIZAEUS MERZBACHER DISEASE;

ALTERNATIVE SPLICING; BASE PAIRING; CELL LINE; FEMALE; HUMANS; INTRONS; MALE; MODELS, MOLECULAR; MUTATION; MYELIN PROTEOLIPID PROTEIN; NUCLEIC ACID CONFORMATION; OLIGODENDROGLIA; PEDIGREE; PELIZAEUS-MERZBACHER DISEASE; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA;

EID: 84925000587     PISSN: None     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddu271     Document Type: Article

References (0)