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PMID: 12437993
Efferth T
Adenosine triphosphate-binding cassette transporter genes in ageing and age-related diseases.
Ageing Res Rev. 2003 Jan;2(1):11-24.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
160
ABCA4 p.Gly1961Glu
X
ABCA4 p.Gly1961Glu 12437993:160:209
status:
NEW
view ABCA4 p.Gly1961Glu details
ABCA4 p.Asp2177Asn
X
ABCA4 p.Asp2177Asn 12437993:160:132
status:
NEW
view ABCA4 p.Asp2177Asn details
The analysis of the two most frequent AMD-associated ABCA4 variants showed an approximately three-fold elevated risk of AMD for the
D2177N
variant carriers and an approximately five-fold elevated risk for the
G1961E
variant carriers.
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