ABCMdb

PMID: 10486215

Zhang K, Kniazeva M, Hutchinson A, Han M, Dean M, Allikmets R
The ABCR gene in recessive and dominant Stargardt diseases: a genetic pathway in macular degeneration.
Genomics. 1999 Sep 1;60(2):234-7., [PubMed]

Sentences

No. Mutations Sentence Comment

4 ABCA4 p.Arg152* One allele of the ABCR gene was shown to carry a stop codon-generating mutation (R152X) in three family members, including the one patient who had inherited also the dominant gene. Login to comment 36 ABCA4 p.Arg152* This substitution creates a stop codon (R152X) in exon 5 of ABCR and, therefore, inactivates one allele of the gene. Login to comment 41 ABCA4 p.Arg152* The identification of the R152X mutation in the AMD patient further supports the role of ABCR in predisposing patients to AMD in the heterozygous state. Login to comment 54 ABCA4 p.Arg152* Segregation of the ABCR R152X variant in this pedigree is shown below as detected by SSCP analysis. Login to comment