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Identification of a new splicing mutation (406-1 G-C) in the CFTR gene

✍ Scribed by A. Bonizzato; E. Nicolis; P. Gasparini


Publisher
John Wiley and Sons
Year
1992
Tongue
English
Weight
154 KB
Volume
1
Category
Article
ISSN
1059-7794

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✦ Synopsis


Cystic fibrosis (CF) is one of the most common severe autosomal recessive disease in Caucasians,


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In order to determine the molecular defect in the CFTR gene in uncharacterized CF patients from former Yugoslavia, we have employed SSCP analysis of PCR amplified fragments of exon 12 of the CFTR gene (Orita et al., 1989) (primer sequences available on request). A bandshift was detected in a DNA sam