Literature DB >> 8829663

Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the beta-glucocerebrosidase gene in Gaucher's disease patients.

B Cormand1, L Vilageliu, S Balcells, R Gonzàlez-Duarte, A Chabás, D Grinberg.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1996        PMID： 8829663     DOI： 10.1002/(SICI)1098-1004(1996)7:3<272::AID-HUMU14>3.0.CO;2-#

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


× No keyword cloud information.
  2 in total

1.  Gaucher disease type 2: homozygosity for the mutation F331S in two unrelated consanguineous Muslim Arab patients with Gaucher disease from the Gaza and Jenin regions.

Authors:  Hagit N Baris; Annick Raas-Rothschild; Ben-Zion Garty; Ruth Tor; Sarah Klontz; Nahid Tayebi; Ellen Sidransky; Ian J Cohen
Journal:  Blood Cells Mol Dis       Date:  2011-09-01       Impact factor: 3.039

2.  Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.

Authors:  Chitra Ankleshwaria; Mehul Mistri; Ashish Bavdekar; Mamta Muranjan; Usha Dave; Parag Tamhankar; Varun Khanna; Eresha Jasinge; Sheela Nampoothiri; Suresh Edayankara Kadangot; Frenny Sheth; Sarita Gupta; Jayesh Sheth
Journal:  J Hum Genet       Date:  2014-02-13       Impact factor: 3.172
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.