ASD - ALTERNATIVE SPLICING


View Record


FIELD NAME
FIELD VALUE
  
AEdbMotif ID:241
Internal ref. ID:562
Submitter name:JIANG WEI
Entry date:04-OCT-2004 14:58:05
 
Regulatory sequence name:gdap1: ganglioside-induced differentiation-associated protein 1
Entry type:Exon enhancer
Sequence origin:Intronic
Organism:Homo sapiens, human
Binding factors:
 
EMBL/Genbank/DDBJ/RefSeq Accession number:NM_018972 , Y17849
Ensembl ID:ENSG00000104381
AEdb ID:
Sequence:ATCAGGC
Mutated regulatory sequence:
 
Methods:Natural ocurring mutant
Keywords:alternative splicing,nerve tissue proteins,demyelinating diseases,peripheral nervous system diseases
 
Citation line:De Sandre-Giovannoli, A.; Chaouch, M.; Boccaccio, I.; Bernard, R.; Delague, V.; Grid, D.; Vallat, J. M.; Levy, N.; Megarbane, A.(2003)“ Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations” J Med Genet. 2003 Jul;40(7):e87.
PubMed ID:12843336
 
Comments:
(activated in workbench):Y
spacer

spacer