rdf:type |
|
lifeskim:mentions |
umls-concept:C0015576,
umls-concept:C0017337,
umls-concept:C0026882,
umls-concept:C0041243,
umls-concept:C0086418,
umls-concept:C0220908,
umls-concept:C0238339,
umls-concept:C0812377,
umls-concept:C1418965,
umls-concept:C1711254,
umls-concept:C1999216
|
pubmed:issue |
8
|
pubmed:dateCreated |
2007-7-6
|
pubmed:abstractText |
Mutations in the cationic trypsinogen gene (PRSS1) have been linked with hereditary pancreatitis (HP). A change in R122H in the third exon is one of the mutations most frequently associated with HP. A mutation N34S in the serine protease inhibitor Kazal type 1 gene has also been shown to be linked with HP. The purpose of this study was to report on the incidence of PRSS1 and SPINK1 mutations in a Finnish family with HP and to correlate the findings to the clinical symptoms.
|
pubmed:language |
eng
|
pubmed:journal |
|
pubmed:citationSubset |
IM
|
pubmed:chemical |
|
pubmed:status |
MEDLINE
|
pubmed:month |
Aug
|
pubmed:issn |
0036-5521
|
pubmed:author |
|
pubmed:issnType |
Print
|
pubmed:volume |
42
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
1000-5
|
pubmed:dateRevised |
2010-11-18
|
pubmed:meshHeading |
pubmed-meshheading:17613931-Adult,
pubmed-meshheading:17613931-Aged, 80 and over,
pubmed-meshheading:17613931-Carrier Proteins,
pubmed-meshheading:17613931-Female,
pubmed-meshheading:17613931-Finland,
pubmed-meshheading:17613931-Genetic Testing,
pubmed-meshheading:17613931-Humans,
pubmed-meshheading:17613931-Male,
pubmed-meshheading:17613931-Middle Aged,
pubmed-meshheading:17613931-Mutation,
pubmed-meshheading:17613931-Pancreatitis,
pubmed-meshheading:17613931-Pedigree,
pubmed-meshheading:17613931-Trypsin,
pubmed-meshheading:17613931-Trypsinogen
|
pubmed:year |
2007
|
pubmed:articleTitle |
Screening for human cationic trypsinogen (PRSS1) and trypsinogen inhibitor gene (SPINK1) mutations in a Finnish family with hereditary pancreatitis.
|
pubmed:affiliation |
Departments of Gastroenterology and Alimentary Tract Surgery, Tampere University Hospital, Tampere, Finland. raty.sari@kulumbus.fi
|
pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|