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[-215G>A; IVS3+2T>C] mutation in the SPINK1 gene causes exon 3 skipping and loss of the trypsin binding site.

作者信息

Kume K, Masamune A, Kikuta K, Shimosegawa T

出版信息

Gut. 2006 Aug;55(8):1214. doi: 10.1136/gut.2006.095752.

Abstract
摘要

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本文引用的文献

1
Mutations in the serine protease inhibitor Kazal Type 1 (SPINK1) gene in Japanese patients with pancreatitis.
Pancreatology. 2005;5(4-5):354-60. doi: 10.1159/000086535. Epub 2005 Jun 23.
3
Human Gene Mutation Database (HGMD): 2003 update.
Hum Mutat. 2003 Jun;21(6):577-81. doi: 10.1002/humu.10212.
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Pre-mRNA splicing and human disease.
Genes Dev. 2003 Feb 15;17(4):419-37. doi: 10.1101/gad.1048803.
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SPINK1/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis.
Gastroenterology. 2000 Sep;119(3):615-23. doi: 10.1053/gast.2000.18017.
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Primary structure of human pancreatic secretory trypsin inhibitor (PSTI) gene.
Biochem Biophys Res Commun. 1987 Dec 16;149(2):635-41. doi: 10.1016/0006-291x(87)90415-3.

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