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Hereditary pancreatitis in a family of Aboriginal descent

✍ 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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Hereditary pancreatitis (HP) is the most common form of chronic relapsing pancreatitis in childhood, and may account for ∼25% 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

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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