PMID: 20032990

Uitto J, Li Q, Jiang Q
Pseudoxanthoma elasticum: molecular genetics and putative pathomechanisms.
J Invest Dermatol. 2010 Mar;130(3):661-70. Epub 2009 Dec 24., [PubMed]
Sentences
No. Mutations Sentence Comment
71 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 20032990:71:66
status: NEW
view ABCC6 p.Arg1141* details
 Two recurrent mutations of high frequency have been identified: p.R1141X in exon 24 is the most common, particularly in Caucasian individuals, with a prevalence of approximately 30% of all pathologic PXE mutations (Pfendner et al., 2007). Login to comment 118 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 20032990:118:108
status: NEW
view ABCC6 p.Arg1141* details
 In a particularly illustrative family, individuals were shown to be heterozygous for a nonsense mutation (p.R1141X) in ABCC6 and a missense mutation (p.V255M) in GGCX. Login to comment