A cluster of cystic fibrosis mutations in exon 17b of the CFTR gene: a site for rare mutations.

Intensive screening has improved our understanding of the profile of mutations in the CFTR gene in which more than 400 mutations have been detected to date. In collaboration with several European laboratories we are involved in such analysis. We have identified 14 new mutations in exon 17b of CFTR,...

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Hlavní autoři: Mercier, B, Lissens, W, Novelli, G, Kalaydjieva, L, de Arce, M, Kapranov, N, Canki Klain, N, Estivill, X, Palacio, A, Cashman, S
Médium: Artigo
Jazyk:Inglês
Vydáno: 1994
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050087/
https://ncbi.nlm.nih.gov/pubmed/7529319
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