PMID: 17544787

Querques G, delle Noci N
Fundus autofluorescence.
Ophthalmology. 2007 Jun;114(6):1233; author reply 1233., [PubMed]
Sentences
No. Mutations Sentence Comment
8 ABCC6 p.Gln378*
X
ABCC6 p.Gln378* 17544787:8:416
status: NEW
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 We performed a complete ophthalmologic examination, including fundus autofluorescence and optical coherence tomography (Fig 1 [available at http://aaojournal.org]), which showed retinal flecks and areas of well-defined atrophy, typical aspects of Stargardt`s disease.3,4 The sequence analysis showed a homozygous nucleotide substitution in exon 9 of the ABCC6 gene (C1132T) introducing a stop codon at position 378 (Q378X). Login to comment 26 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 17544787:26:68
status: NEW
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 Patients with premature coronary artery disease who carry the ABCC6 R1141X mutation have no pseudoxanthoma elasticum phenotype. Login to comment