Mutations of cationic trypsinogen in chronic pancreatitis
β Scribed by JE Creighton; R Lyall; DI Wilson; A Curtis; RM Charnley
- Book ID
- 117295402
- Publisher
- The Lancet
- Year
- 1999
- Tongue
- English
- Weight
- 27 KB
- Volume
- 354
- Category
- Article
- ISSN
- 0140-6736
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Ten years ago, the groundwork for the discovery of the genetic basis of chronic pancreatitis was laid by linkage analyses of large kindreds with autosomal dominant hereditary chronic pancreatitis. Subsequent candidate gene sequencing of the 7q35 chromosome region revealed a strong association of the
Hereditary pancreatitis (OMIM 167800) is thought to be associated with a mutation of the exon 3 of cationic trypsinogen (Nature Genet (1996): 14:141-145). This paper reports sequence data of two independent families suffering from this disease. PCR amplificates from leukocyte or buccal swab DNA show