ABCMdb

PMID: 11493310

Ringpfeil F, Pulkkinen L, Uitto J
Molecular genetics of pseudoxanthoma elasticum.
Exp Dermatol. 2001 Aug;10(4):221-8., [PubMed]

Sentences

No. Mutations Sentence Comment

74 ABCC6 p.Arg1141* ABCC6 p.Arg1164* Three recurrent mutations, R1141X, R1164X, and Del exon 23-29, are boxed (see text). Login to comment 87 ABCC6 p.Arg1141* ABCC6 p.Arg1164* Among the PTC causing mutations, two recurrent nonsense mutations, R1141X and R1164X, have been identified Figure . Login to comment 93 ABCC6 p.Arg1141* In particular, the R1141X mutation, which results from C»T transition in nucleotide position 3421, has been encountered in approximately 15% of the mutated alleles disclosed thus far. Login to comment 125 ABCC6 p.Arg1138Trp Mutation detection revealed that both the mother and her daughter were homozygous for a missense mutation R1138W, which affects a critical amino acid residue within the intracellular loop of the Figure 5. Login to comment 127 ABCC6 p.Arg1138Trp Sequence analysis of mother (V-1) and daughter (VI-2) revealed that both are homozygous for the R1138W mutation, while the father of the affected daughter (V-2) is a heterozygous carrier of the same mutation. Login to comment