PMID: 15184964

Yoshida S, Honda M, Yoshida A, Nakao S, Goto Y, Nakamura T, Fujisawa K, Ishibashi T
Novel mutation in ABCC6 gene in a Japanese pedigree with pseudoxanthoma elasticum and retinitis pigmentosa.
Eye (Lond). 2005 Feb;19(2):215-7., [PubMed]
Sentences
No. Mutations Sentence Comment
21 ABCC6 p.Gln199*
X
ABCC6 p.Gln199* 15184964:21:83
status: NEW
view ABCC6 p.Gln199* details
 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. Login to comment