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Cystic fibrosis mutations delta F508 and G542X in Jewish patients.

We have screened our CF patients for mutations in exons 10 and 11 of the CFTR gene. Two mutations, delta F508 and G542X, have been found in 66 Jewish CF patients. The average frequency of the delta F508 mutation in the Jewish population is 33.8%. The G542X mutation accounts for 13% of the Ashkenazi...

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Detalles Bibliográficos
Publicado en:J Med Genet
Main Authors: Lerer, I, Sagi, M, Cutting, G R, Abeliovich, D
Formato: Artigo
Idioma:Inglês
Publicado: BMJ Publishing Group 1992
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Acceso en liña:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1015854/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1377276/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.29.2.131
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