Two missense mutations in GPNMB cause autosomal recessive amyloidosis cutis dyschromica in the consanguineous pakistani families.
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| Title: | Two missense mutations in GPNMB cause autosomal recessive amyloidosis cutis dyschromica in the consanguineous pakistani families. |
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| Authors: | Rahman OU; Biochemistry Department, Swat Medical College, Swat, Pakistan., Kim J; Department of Biotechnology, Sungshin Women's University, Seoul, Republic of Korea., Mahon C; Department of Dermatology, Christchurch School of Medicine, Christchurch Hospital, University of Otago, Christchurch, New Zealand., Jelani M; Centre for Omic Sciences, Islamia College Peshawar, Khyber Pakhtunkhwa, Pakistan. mjelani@icp.edu.pk., Kang C; Department of Biotechnology, Sungshin Women's University, Seoul, Republic of Korea. ckang@sungshin.ac.kr. |
| Source: | Genes & genomics [Genes Genomics] 2021 May; Vol. 43 (5), pp. 471-478. Date of Electronic Publication: 2021 Mar 09. |
| Publication Type: | Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: The Korean Society of Genetics Country of Publication: Korea (South) NLM ID: 101481027 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2092-9293 (Electronic) Linking ISSN: 19769571 NLM ISO Abbreviation: Genes Genomics Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| ISSN: | 2092-9293 |
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| DOI: | 10.1007/s13258-021-01071-6 |
