Hereditary pancreatitis in a family of Aboriginal descent
β Scribed by JM McGaughran; R Kimble; J Upton; P George
- Book ID
- 108954643
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 66 KB
- Volume
- 40
- Category
- Article
- ISSN
- 1034-4810
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π SIMILAR VOLUMES
Hereditary pancreatitis (HP) is the most common form of chronic relapsing pancreatitis in childhood, and may account for βΌ25% of adult cases with chronic idiopathic pancreatitis. Recently, an arginine-histidine (R117H) mutation within the cationic trypsinogen gene was found in 5/5 families studied w
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