PMID: 17724214

Audo I, Vanakker OM, Smith A, Leroy BP, Robson AG, Jenkins SA, Coucke PJ, Bird AC, De Paepe A, Holder GE, Webster AR
Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding?
Invest Ophthalmol Vis Sci. 2007 Sep;48(9):4250-6., [PubMed]
Sentences
No. Mutations Sentence Comment
112 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 17724214:112:60
status: NEW
view ABCC6 p.Arg1141* details
 On mutation analysis, this patient was homozygous for the p.R1141X nonsense mutation (c.3421C3T) in exon 24 (Fig. 5c). Login to comment 129 ABCC6 p.Arg1114Pro
X
ABCC6 p.Arg1114Pro 17724214:129:66
status: NEW
view ABCC6 p.Arg1114Pro details
 The patient was found to be compound heterozygous for the known p.R1114P missense mutation (c.3341G3C) in exon 24 and a multiexon deletion of exons 23 through 29 (Figs. Login to comment