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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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Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: Kaur, Rajdeep, Attri, Savita V., Saini, Arushi G., Sankhyan, Naveen, Singh, Satwinder, Faruq, Mohammed, Ramprasad, V. L., Sharda, Sheetal, Murugan, Sakthivel
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2020
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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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