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Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation.
BMC Med Genet. 2019 Feb 14;20(1):31. doi: 10.1186/s12881-019-0759-1.
BMC Med Genet. 2019.
PMID: 30764785
Free PMC article.
Diagnosis and Management of Gaucher Disease in India - Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics.
Puri RD, Kapoor S, Kishnani PS, Dalal A, Gupta N, Muranjan M, Phadke SR, Sachdeva A, Verma IC, Mistry PK; Gaucher Disease Task Force.
Puri RD, et al.
Indian Pediatr. 2018 Feb 15;55(2):143-153.
Indian Pediatr. 2018.
PMID: 29503270
Free article.
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