PMID: 12037008

Klevering BJ, Blankenagel A, Maugeri A, Cremers FP, Hoyng CB, Rohrschneider K
Phenotypic spectrum of autosomal recessive cone-rod dystrophies caused by mutations in the ABCA4 (ABCR) gene.
Invest Ophthalmol Vis Sci. 2002 Jun;43(6):1980-5., [PubMed]
Sentences
No. Mutations Sentence Comment
111 ABCA4 p.Gln1029*
X
ABCA4 p.Gln1029* 12037008:111:105
status: NEW
view ABCA4 p.Gln1029* details
 A patient with RP who was homozygous for the IVS30ϩ1G3T mutation has been described,12 whereas the Q1029X mutation has not been described. Login to comment