Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Silvia Bronstein"'
Autor:
Leah Peleg, Elon Pras, Silvia Bronstein, Hagith Yonath, Moshe Frydman, M. Karpati, Michal Berkenstadt
Publikováno v:
Journal of Medical Screening. 18:169-172
Objective To assess the frequency of the D1152H mutation in the CFTR gene in normal individuals, in cystic fibrosis (CF) patients and in the setting of prenatal diagnosis. Setting A database analysis of sequential screening results seen at the Sheba
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::274ae23f5bafd8ca688c42cbe022c96c
https://doi.org/10.1258/jms.2011.011044
https://doi.org/10.1258/jms.2011.011044
Autor:
Boleslaw Goldman, Amos Frisch, Narinsky R, Silvia Bronstein, M Karpaty, Leah Peleg, Moshe Frydman
Publikováno v:
European journal of human genetics : EJHG. 6(2)
The heterozygote frequency of Gaucher disease (GD) and Tay-Sachs disease (TSD) is distinctly high among Ashkenazi Jews (1:29 for TSD and 1:16 for GD). Two main theories have been suggested to explain this high occurrence: a founder effect with subseq
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6f226849c191ad1db501d4131a90dcd
https://pubmed.ncbi.nlm.nih.gov/9781065
https://pubmed.ncbi.nlm.nih.gov/9781065