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- Title
Three novel mutations in GPNMB in two pedigrees with amyloidosis cutis dyschromica.
- Authors
Wang, J.; Li, Y.; Xing, L.; Zhao, M.; Zhang, S.; Li, Z.; Yao, Z.; Li, M.
- Abstract
In this study, we describe two pedigrees with ACD including a frameshift mutation and two nonsense mutations in the I GPNMB i gene. Yang I et al i . have reported mutations in the I GPNMB i gene in associated with ACD.[3] Genomic DNA samples were extracted from the peripheral blood of our probands and their family members after informed consent. This report extends the mutation spectrum of ACD and reinforces that I GPNMB i is the pathogenic gene for ACD.
- Subjects
GENEALOGY; HYPERPIGMENTATION
- Publication
British Journal of Dermatology, 2019, Vol 181, Issue 6, p1327
- ISSN
0007-0963
- Publication type
Article
- DOI
10.1111/bjd.18260