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Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa
Dowling-Degos disease (DDD) is an autosomal-dominant disorder of skin pigmentation associated with mutations in keratin 5 (KRT5), protein O-fucosyltransferase 1 (POFUT1), or protein O-glucosyltransferase 1 (POGLUT1). Here, we have identified 6 heterozygous truncating mutations in PSENEN, encoding pr...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | J Clin Invest |
|---|---|
| Prif Awduron: | , , , , , , , , , , , , , , , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
American Society for Clinical Investigation
2017
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| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5373890/ https://ncbi.nlm.nih.gov/pubmed/28287404 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI90667 |
| Tagiau: |
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