Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease
Hum Genet
.
2010 Jan;127(1):119.
Authors
Jana Aguirre-Lamban
1
,
R Riveiro-Alvarez
,
D Cantalapiedra
,
M Garcia-Hoyos
,
A Avila-Fernandez
,
C Villaverde-Montero
,
M J Trujillo-Tiebas
,
C Ayuso
Affiliation
1
Genetics, Fundacion Jimenez Diaz, Avda. Reyes Catolicos, 2, 28040, Madrid, Spain. jaguirre@fjd.es
PMID:
20108396
No abstract available
MeSH terms
ATP-Binding Cassette Transporters / genetics*
Codon / genetics
Eye Diseases, Hereditary / genetics*
Humans
Mutation, Missense*
Substances
ABCA4 protein, human
ATP-Binding Cassette Transporters
Codon