Two frameshift mutations in the cystic fibrosis gene

Cystic fibrosis (CF) is a recessive disease caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. We have identified in exon 7 two frameshift mutations, one caused by a two-nucleotide insertion and the other caused by a one-nucleotide deletion; these mutations–CF1154insTC an...

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Autori principali: Iannuzzi, Michael C., Stern, Robert C., Collins, Francis S., Hon, Catherine Tom, Hidaka, Noriko, Strong, Theresa, Becker, Lisa, Drumm, Mitchell L., White, Marga B., Gerrard, Bernard, Dean, Michael
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1991
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683026/
https://ncbi.nlm.nih.gov/pubmed/1990834
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