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15 Genotype-phenotype correlation in cystic fibrosis patients in Slovakia – novel mutations

✍ Scribed by H. Kayserová

Book ID
118642936
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
42 KB
Volume
10
Category
Article
ISSN
1569-1993

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Currently, more than 1,000 mutations have been identified in the cystic fibrosis transmembrane regulator (CFTR) gene. While some mutations are common worldwide, the majority are restricted in certain ethnic groups. We have found that in Southern Italy, the 852del22 mutation is well represented with