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Seven novel genetic variants in a North Indian cohort with classical homocystinuria
Classical homocystinuria is the most common cause of isolated homocystinuria. The variants of the CBS gene remain unidentified in Indian children with this disorder. Based on the hallmark clinical features, family history, and/or biochemical clues for classical homocystinuria, 16 children below the...
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| Publicado no: | Sci Rep |
|---|---|
| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group UK
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7560719/ https://ncbi.nlm.nih.gov/pubmed/33057012 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-020-73475-5 |
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