PMID: 15614538

Lorenz B, Preising MN
Age matters--thoughts on a grading system for ABCA4 mutations.
Graefes Arch Clin Exp Ophthalmol. 2005 Feb;243(2):87-9. Epub 2004 Dec 22., [PubMed]
Sentences
No. Mutations Sentence Comment
33 ABCA4 p.Asp2177Asn
X
ABCA4 p.Asp2177Asn 15614538:33:60
status: NEW
view ABCA4 p.Asp2177Asn details
ABCA4 p.Val2050Leu
X
ABCA4 p.Val2050Leu 15614538:33:68
status: NEW
view ABCA4 p.Val2050Leu details
 All carry mutations which have been reported mostly in AMD (D2177N, V2050L [1, 16, 18]) or STGD (L541P+A1038V [3]). Login to comment 34 ABCA4 p.Asp2177Asn
X
ABCA4 p.Asp2177Asn 15614538:34:60
status: NEW
view ABCA4 p.Asp2177Asn details
ABCA4 p.Val2050Leu
X
ABCA4 p.Val2050Leu 15614538:34:68
status: NEW
view ABCA4 p.Val2050Leu details
 All carry mutations which have been reported mostly in AMD (D2177N, V2050L [1, 16, 18]) or STGD (L541P+A1038V [3]). Login to comment