[-215G>A;IVS3+2T>C] mutation in the SPINK1 gene causes exon 3 skipping and loss of the trypsin binding site [12]

Gut

Volumn 55, Issue 8, 2006, Pages 1214-

  Kume, K ^a   Masomune, A ^a   Kikuta, K ^a   Shimosegawa, T ^a  

^a TOHOKU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

SERINE PROTEINASE INHIBITOR; SERINE PROTEINASE INHIBITOR KAZAL TYPE 1; UNCLASSIFIED DRUG;

CHRONIC PANCREATITIS; EXON; GENE MUTATION; GENE SEQUENCE; HUMAN; LETTER; NORTHERN BLOTTING; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

AGED; BINDING SITES; CARRIER PROTEINS; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; PANCREATITIS, CHRONIC; TRYPSIN;

EID: 33746117691     PISSN: 00175749     EISSN: None     Source Type: Journal    
DOI: 10.1136/gut.2006.095752     Document Type: Letter

References (10)

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2. Pfutzer RH, Barmada MM, Brunskill AP, et al. SPINK1/PST1 polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis. Gastroenterology 2000;119:615-23.
3. Horii A, Kobayashi T, Tomita N, et al. Primary structure of human pancreatic secretory trypsin inhibitor (PSTI) gene. Biochem Biophys Res Commun 1987;149:635-41.
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10. Le Marechal C, Chen JM, Le Gall C, et al. Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial and/or hereditary pancreatitis. Hum Mutat 2004;23:205.