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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Veröffentlicht in:Sci Rep
Hauptverfasser: Kaur, Rajdeep, Attri, Savita V., Saini, Arushi G., Sankhyan, Naveen, Singh, Satwinder, Faruq, Mohammed, Ramprasad, V. L., Sharda, Sheetal, Murugan, Sakthivel
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group UK 2020
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Article
Online Zugang: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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