Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Bernice Allito"'
Autor:
Ruth A. Heim, Lodercio Culpi, Nelson Rosario, Lairton Valentim, Bernice Allito, John A. Phillips, Norberto Ludwig, Salmo Raskin, Elaine A Sugarman, Fabio R. Faucz, Francisco J.C. Reis, Christian M. Probst, Lilian Pereira
Publikováno v:
Genetic Testing. 7:213-218
Cystic fibrosis (CF) is an autosomal recessive disease caused by at least 1,000 different mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR). To determine the frequency of 70 common worldwide CFTR mutations in 155 Euro-B
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edd99440487947ea29102c0bd23d902a
https://doi.org/10.1089/109065703322537223
https://doi.org/10.1089/109065703322537223
Autor:
Gita P. Gidwani, Lorna S. Timmreck, Richard H. Reindollar, Bernice Allito, Elizabeth M. Rohlfs, Mark R. Gray, Ann J. Davis, Barbara Handelin
Publikováno v:
American Journal of Medical Genetics. :72-76
The relationship between cystic fibrosis transmembrane conductance regulator gene (CFTR) mutations and congenital absence of the uterus and vagina (CAUV) was examined. CFTR mutations have previously been associated with congenital bilateral absence o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::638d425d33873e63fca6a198cd4bf9ec
https://doi.org/10.1002/ajmg.a.20197
https://doi.org/10.1002/ajmg.a.20197
Autor:
Salmo Raskin, Lilian Pereira, Francisco Reis, Nelson A. Rosario, Norberto Ludwig, Lairton Valentim, John A. Phillips, Bernice Allito, Ruth A. Heim, Elaine A. Sugarman, Christian M. Probst, Fabio Faucz, Lodercio Culpi
Publikováno v:
Genetic Testing; 9/01/2003, Vol. 7 Issue 3, p213-218, 6p