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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Detalles Bibliográficos
Autores principales: Kaur, Rajdeep, Attri, Savita V., Saini, Arushi G., Sankhyan, Naveen, Singh, Satwinder, Faruq, Mohammed, Ramprasad, V. L., Sharda, Sheetal, Murugan, Sakthivel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7560719/
https://www.ncbi.nlm.nih.gov/pubmed/33057012
http://dx.doi.org/10.1038/s41598-020-73475-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7560719/
https://www.ncbi.nlm.nih.gov/pubmed/33057012
http://dx.doi.org/10.1038/s41598-020-73475-5

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