PMID: 19352439

Xi Q, Li L, Traboulsi EI, Wang QK
Novel ABCA4 compound heterozygous mutations cause severe progressive autosomal recessive cone-rod dystrophy presenting as Stargardt disease.
Mol Vis. 2009;15:638-45. Epub 2009 Apr 3., [PubMed]
Sentences
No. Mutations Sentence Comment
114 ABCA4 p.Arg219*
X
ABCA4 p.Arg219* 19352439:114:107
status: NEW
view ABCA4 p.Arg219* details
 An A to T change in exon 6 (c.655A>T) resulted in a stop codon and thus generated a mutant ABCR protein (p.R219X; Figure 3A for wild type and Figure 3D for mutant sequence). Login to comment