Učitavanje...
A novel frameshift mutation in the XPC gene in a Moroccan patient: a case report
BACKGROUND: Xeroderma pigmentosum is an autosomal recessive inherited disease. The diagnosis is essentially based on clinical findings and the family history. This genodermatosis is genetically heterogeneous; to date, nine genes have been associated to this disorder. Based on the result of many stud...
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| Izdano u: | J Med Case Rep |
|---|---|
| Glavni autori: | , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
BioMed Central
2017
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5471900/ https://ncbi.nlm.nih.gov/pubmed/28615033 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13256-017-1311-6 |
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