ABCC6 p.Gln199*
[switch to full view]Comments [show]
None has been submitted yet.
PMID: 15184964
[PubMed]
Yoshida S et al: "Novel mutation in ABCC6 gene in a Japanese pedigree with pseudoxanthoma elasticum and retinitis pigmentosa."
No.
Sentence
Comment
21
Despite extensive screening, we have not found another mutation in the second, non-Q199X, ABCC6 allele in the siblings, leaving the possibility that mutations may be located in a non-coding region or consist of a heterozygous exonic deletion of the ABCC6 gene.
X
ABCC6 p.Gln199* 15184964:21:83
status: NEW