Publications:

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

Bmc Medical Genetics

Sheth, Jayesh J; Bhavsar, Riddhi R; Mistri, Mehul M; Pancholi, Dhairya D; Bavdekar, Ashish A; Dalal, Ashwin A; Ranganath, Prajnya P; Girisha, Katta M KM; Shukla, Anju A; Phadke, Shubha S; Puri, Ratna R; Panigrahi, Inusha I; Kaur, Anupriya A; Muranjan, Mamta M; Goyal, Manisha M; Ramadevi, Radha R; Shah, Raju R; Nampoothiri, Sheela S; Danda, Sumita S; Datar, Chaitanya C; Kapoor, Seema S; Bhatwadekar, Seema S; Sheth, Frenny F

Publication Date: 2019-02-14

Variant appearance in text: GBA1: 167T>G; rs878853318

PubMed Link: 30764785

Variant Present in the following documents:

• Main text
• 12881_2019_Article_759.pdf

View BVdb publication page

Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India.

Bmc Medical Genetics

Sheth, Jayesh J; Pancholi, Dhairya D; Mistri, Mehul M; Nath, Payal P; Ankleshwaria, Chitra C; Bhavsar, Riddhi R; Puri, Ratna R; Phadke, Shubha S; Sheth, Frenny F

Publication Date: 2018-10-01

Variant appearance in text: GBA: 167T>G

PubMed Link: 30285649

Variant Present in the following documents:

• Main text
• 12881_2018_Article_687.pdf

View BVdb publication page