Two missense mutations in GPNMB cause autosomal recessive amyloidosis cutis dyschromica in the consanguineous pakistani families
Author:
Funder
Sungshin Women’s University
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,Biochemistry
Link
https://link.springer.com/content/pdf/10.1007/s13258-021-01071-6.pdf
Reference25 articles.
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3. Arita K, South AP, Hans-Filho G, Sakuma TH, Lai-Cheong J, Clements S, Odashiro M, Odashiro DN, Hans-Neto G, Hans NR et al (2008) Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosis. Am J Hum Genet 82:73–80
4. Bourke JF, Berth-Jones J, Burns DA (1992) Diffuse primary cutaneous amyloidosis. Br J Dermatol 127:641–644
5. Ceccherini I, Romei C, Barone V, Pacini F, Martino E, Loviselli A, Pinchera A, Romeo G (1994) Identification of the Cys634–>Tyr mutation of the RET proto-oncogene in a pedigree with multiple endocrine neoplasia type 2A and localized cutaneous lichen amyloidosis. J Endocrinol Invest 17:201–204
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