絞り込み

16643

広告

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

著者 Sheth J , Bhavsar R , Mistri M , Pancholi D , Bavdekar A , Dalal A , Ranganath P , Girisha KM , Shukla A , Phadke S , Puri R , Panigrahi I , Kaur A , Muranjan M , Goyal M , Ramadevi R , Shah R , Nampoothiri S , Danda S , Datar C , Kapoor S , Bhatwadekar S
BMC Med Genet.2019 Feb 14 ; 20(1):31.
この記事をPubMed上で見るPubMedで表示
この記事をGoogle翻訳上で見る Google翻訳で開く

スターを付ける スターを付ける     (59view , 0users)

Full Text Sources

Medical

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, nearly 460 mutations have been described in the GBA1 gene. With the aim to determine mutations spectrum and molecular pathology of Gaucher disease in India, the present study investigated one hundred unrelated patients (age range: 1 day to 31 years) having splenomegaly, with or without hepatomegaly, cytopenia and bone abnormality in some of the patients.
PMID: 30764785 [PubMed - in process]
印刷用ページを開く Endnote用テキストダウンロード