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Characterisation of mutations and genotype–phenotype correlation in cystic fibrosis: Experience from India

✍ Scribed by Shivaram S. Shastri; Madhulika Kabra; Sushil Kumar Kabra; Ravindra M. Pandey; P.S.N. Menon

Book ID
119288574
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
234 KB
Volume
7
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