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S149R, a novel mutation in the ABCD1 gene causing X-linked adrenoleukodystrophy
X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. It is a heterogeneous disorder caused by mutations in the ATP-binding cassette protein subfamily D1 (ABCD1) gene, encoding the peroxisomal membrane protein ALDP, which is involved in the transmembrane transport of very lo...
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| Publicado no: | Oncotarget |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Impact Journals LLC
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5675651/ https://ncbi.nlm.nih.gov/pubmed/29152099 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.18632/oncotarget.20974 |
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