Identification of novel variants in a large cohort of children with Tay–Sachs disease: An initiative of a multicentric task force on lysosomal storage disorders by Government of India

Author:

Mistri Mehul,Mehta Sanjeev,Solanki Dhaval,Kamate Mahesh,Gupta Neerja,Kabra Madhulika,Puri Ratna,Girisha Katta,Hariharan Sankar,Nampoothiri Sheela,Sheth FrennyORCID,Sheth Jayesh

Funder

Indian Council of Medical Research

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Cited by 5 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. GM2 Gangliosidosis: Whole-Exome Sequencing Reveals Novel Homozygous Pathogenic Variant within the HEXA Gene in Iranian Family;Russian Journal of Genetics;2024-01

2. Perspectives on the future of dysmorphology;American Journal of Medical Genetics Part A;2022-12-09

3. Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients;Journal of Molecular Neuroscience;2021-09-23

4. Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and Morocco;Klinische Pädiatrie;2021-04-08

5. Genome editing in lysosomal disorders;Progress in Molecular Biology and Translational Science;2021

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