PMID: 12600949

Maccari F, Gheduzzi D, Volpi N
Anomalous structure of urinary glycosaminoglycans in patients with pseudoxanthoma elasticum.
Clin Chem. 2003 Mar;49(3):380-8., [PubMed]
Sentences
No. Mutations Sentence Comment
154 ABCC6 p.Arg1141*
X
ABCC6 p.Arg1141* 12600949:154:291
status: NEW
view ABCC6 p.Arg1141* details
 Four of them were heterozygous for a stop codon mutation on one allele and a missense mutation on the other allele, one was heterozygous for a deletion on one allele and a nonsense mutation on the second allele, and five are still under investigation. The great majority of patients had the R1141X stop codon mutation in homozygosity or heterozygosity with another mutation. Login to comment