Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation

BACKGROUND: Gaucher disease is a rare pan-ethnic, lysosomal storage disorder resulting due to beta-Glucosidase (GBA1) gene defect. This leads to the glucocerebrosidase enzyme deficiency and an increased accumulation of undegraded glycolipid glucocerebroside inside the cells’ lysosomes. To date, near...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:BMC Med Genet
Prif Awduron: Sheth, Jayesh, Bhavsar, Riddhi, Mistri, Mehul, Pancholi, Dhairya, Bavdekar, Ashish, Dalal, Ashwin, Ranganath, Prajnya, Girisha, Katta M, Shukla, Anju, Phadke, Shubha, Puri, Ratna, Panigrahi, Inusha, Kaur, Anupriya, Muranjan, Mamta, Goyal, Manisha, Ramadevi, Radha, Shah, Raju, Nampoothiri, Sheela, Danda, Sumita, Datar, Chaitanya, Kapoor, Seema, Bhatwadekar, Seema, Sheth, Frenny
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BioMed Central 2019
Pynciau:
Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6376752/
https://ncbi.nlm.nih.gov/pubmed/30764785
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-019-0759-1
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