PMID: 9503029

Gerber S, Rozet JM, van de Pol TJ, Hoyng CB, Munnich A, Blankenagel A, Kaplan J, Cremers FP
Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease.
Genomics. 1998 Feb 15;48(1):139-42., [PubMed]
Sentences
No. Mutations Sentence Comment
6 ABCA4 p.Arg212Cys
X
ABCA4 p.Arg212Cys 9503029:6:60
status: NEW
view ABCA4 p.Arg212Cys details
ABCA4 p.Arg18Trp
X
ABCA4 p.Arg18Trp 9503029:6:54
status: NEW
view ABCA4 p.Arg18Trp details
 Amplification conditions were 94ЊC for 4 exons (R18W, R212C) gives additional support to the min followed by 10 cycles at 93ЊC for 10 s, 59ЊC for 15 broad allelic heterogeneity of Stargardt disease. Login to comment