PMID: 18334942

Riveiro-Alvarez R, Vallespin E, Wilke R, Garcia-Sandoval B, Cantalapiedra D, Aguirre-Lamban J, Avila-Fernandez A, Gimenez A, Trujillo-Tiebas MJ, Ayuso C
Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa.
Mol Vis. 2008 Feb 4;14:262-7., [PubMed]
Sentences
No. Mutations Sentence Comment
7 ABCA4 p.Asn1805Asp
X
ABCA4 p.Asn1805Asp 18334942:7:89
status: NEW
view ABCA4 p.Asn1805Asp details
 Results: A patient, who exhibited a STGD phenotype, was found to be homozygous for the p.Asn1805Asp (c.5413A>G) mutation in ABCA4. Login to comment 79 ABCA4 p.Asn1805Asp
X
ABCA4 p.Asn1805Asp 18334942:79:36
status: NEW
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 homozygous for the missense ABCA4 p.Asn1805Asp (c. Login to comment 95 ABCA4 p.Asn1805Asp
X
ABCA4 p.Asn1805Asp 18334942:95:42
status: NEW
view ABCA4 p.Asn1805Asp details
 The STGD patient carried the homozygous p.Asn1805Asp allele in the ABCA4 gene, while the RP patient had the disease-associated alleles p.Cys948Tyr and p.Trp822ter cosegregating in the CRB1 gene. Login to comment 96 ABCA4 p.Asn1805Asp
X
ABCA4 p.Asn1805Asp 18334942:96:6
status: NEW
view ABCA4 p.Asn1805Asp details
 The p.Asn1805Asp allele may act as a modifying factor for the RP phenotype in the female patient. Login to comment