PMID: 10951257

Ringpfeil F, Lebwohl MG, Uitto J
Abstracts: mutations in the MRP6 gene cause pseudoxanthoma elasticum
J Invest Dermatol. 2000 Aug;115(2):332., [PubMed]
Sentences
No. Mutations Sentence Comment
8 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 10951257:8:34
status: NEW
view ABCC6 p.Arg1141* details
 A particular stop codon mutation, R1141X, occurred independently in six unrelated kindreds. Login to comment