PMID: 14764080

Annovazzi L, Viglio S, Gheduzzi D, Pasquali-Ronchetti I, Zanone C, Cetta G, Iadarola P
High levels of desmosines in urine and plasma of patients with pseudoxanthoma elasticum.
Eur J Clin Invest. 2004 Feb;34(2):156-64., [PubMed]
Sentences
No. Mutations Sentence Comment
62 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 14764080:62:38
status: NEW
view ABCC6 p.Arg1141* details
Four patients were homozygous for the R1141X mutation on both alleles, two patients were homozygous for a mutation on exons 9 and 30, respectively.All the others were compound heterozygous with mutations on exons 9, 10, 12, 23, 24 and 28. Login to comment