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Identification and Computational Analysis of Novel TYR and SLC45A2 Gene Mutations in Pakistani Families With Identical Non-syndromic Oculocutaneous Albinism
Non-syndromic oculocutaneous albinism (nsOCA) is an inherited disorder of melanin biosynthesis with autosomal recessive mode of inheritance, presenting either hypopigmented or depigmented skin, hair, and eyes. It is genetically heterogeneous with seven loci (OCA1–OCA7) reported to date. In the prese...
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| Gepubliceerd in: | Front Genet |
|---|---|
| Hoofdauteurs: | , , , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Frontiers Media S.A.
2020
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7385404/ https://ncbi.nlm.nih.gov/pubmed/32849781 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2020.00749 |
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