PMID: 10431237

Bodzioch M, Orso E, Klucken J, Langmann T, Bottcher A, Diederich W, Drobnik W, Barlage S, Buchler C, Porsch-Ozcurumez M, Kaminski WE, Hahmann HW, Oette K, Rothe G, Aslanidis C, Lackner KJ, Schmitz G
The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease.
Nat Genet. 1999 Aug;22(4):347-51., [PubMed]
Sentences
No. Mutations Sentence Comment
50 ABCA4 p.Asn965Ser
X
ABCA4 p.Asn965Ser 10431237:50:94
status: NEW
view ABCA4 p.Asn965Ser details
 The mutation detected in TD3 does not affect these amino acids, but the identical exchange of asparagine 965 to serine in the first Walker A motif GHNGAGKT of ABCR is responsible for Stargardt macular dystrophy18. Login to comment