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A G→C change at the donor splice site of intron 1 causes lipoprotein lipase deficiency in a Southern-Italian family

✍ Scribed by Guglielmina Chimienti; Antonio Capurso; Francesco Resta; Gabriella Pepe


Book ID
115765248
Publisher
Elsevier Science
Year
1992
Tongue
English
Weight
676 KB
Volume
187
Category
Article
ISSN
0006-291X

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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