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Volumn 41, Issue 2, 2012, Pages 329-330

Functional analysis of eight missense mutations in the SPINK1 gene

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Indexed keywords

APROTININ;

EID: 84863260709     PISSN: 08853177     EISSN: 15364828     Source Type: Journal    
DOI: 10.1097/MPA.0b013e3182277b83     Document Type: Letter
Times cited : (17)

References (10)
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    • Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis
    • DOI 10.1038/76088
    • Witt H, LuckW, Hennies HC, et al. Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis. Nat Genet. 2000;25: 213-216. (Pubitemid 30394996)
    • (2000) Nature Genetics , vol.25 , Issue.2 , pp. 213-216
    • Witt, H.1    Luck, W.2    Hennies, H.C.3    Classen, M.4    Kage, A.5    Lass, U.6    Landt, O.7    Becker, M.8
  • 4
    • 34548186235 scopus 로고    scopus 로고
    • Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene
    • DOI 10.1038/sj.ejhg.5201873, PII 5201873
    • Boulling A, Le Maréchal C, Trouvé P, et al. Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene. Eur J Hum Genet. 2007;15:936-942. (Pubitemid 47308469)
    • (2007) European Journal of Human Genetics , vol.15 , Issue.9 , pp. 936-942
    • Boulling, A.1    Le Marechal, C.2    Trouve, P.3    Raguenes, O.4    Chen, J.-M.5    Ferec, C.6
  • 5
    • 34948901262 scopus 로고    scopus 로고
    • Missense mutations in pancreatic secretory trypsin inhibitor (SPINK1) cause intracellular retention and degradation
    • DOI 10.1136/gut.2006.115725
    • Király O, Wartmann T, Sahin-Tóth M. Missense mutations in pancreatic secretory trypsin inhibitor (SPINK1) cause intracellular retention and degradation. Gut. 2007;56: 1433-1438. (Pubitemid 47517840)
    • (2007) Gut , vol.56 , Issue.10 , pp. 1433-1438
    • Kiraly, O.1    Wartmann, T.2    Sahin-Toth, M.3
  • 6
    • 1442329633 scopus 로고    scopus 로고
    • Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene SPINK1 cause familial and/or hereditary pancreatitis
    • Le Maréchal 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.
    • (2004) Hum. Mutat. , vol.23 , pp. 205
    • Le Maréchal, C.1    Chen, J.M.2    Le Gall, C.3
  • 7
    • 33749143421 scopus 로고    scopus 로고
    • Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis
    • DOI 10.1097/01.mpa.0000232014.94974.75, PII 0000667620061000000002
    • Keiles S, Kammesheidt A. Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis. Pancreas. 2006;33:221-227. (Pubitemid 44470135)
    • (2006) Pancreas , vol.33 , Issue.3 , pp. 221-227
    • Keiles, S.1    Kammesheidt, A.2
  • 8
    • 38349103626 scopus 로고    scopus 로고
    • A novel spink1 gene mutation c 206c9t in a thai patient with chronic alcoholic pancreatitis
    • Rerknimitr R, Shotelersuk V, Buranasupkajorn P, et al. A novel SPINK1 gene mutation, c.206C9T, in a Thai patient with chronic alcoholic pancreatitis. JOP. 2008;9:33-36.
    • (2008) JOP , vol.9 , pp. 33-36
    • Rerknimitr, R.1    Shotelersuk, V.2    Buranasupkajorn, P.3
  • 9
    • 26244432633 scopus 로고    scopus 로고
    • Mutation analysis of SPINK1 and CFTR gene in Korean patients with alcoholic chronic pancreatitis
    • DOI 10.1007/s10620-005-2950-9
    • Lee KH, Ryu JK, Yoon WJ, et al. Mutation analysis of SPINK1 and CFTR gene in Korean patients with alcoholic chronic pancreatitis. Dig Dis Sci. 2005;50: 1852-1856. (Pubitemid 41413902)
    • (2005) Digestive Diseases and Sciences , vol.50 , Issue.10 , pp. 1852-1856
    • Kwang, H.L.1    Ryu, J.K.2    Won, J.Y.3    Jun, K.L.4    Kim, Y.-T.5    Yong, B.Y.6
  • 10
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    • Assessing the pathological relevance of spink1 promoter variants
    • 10.1038/ejhg.2011.79
    • Boulling A, Witt H, Chandak GR, et al. Assessing the pathological relevance of SPINK1 promoter variants. Eur J Hum Genet. (doi:10.1038/ejhg.2011. 79).
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    • Boulling, A.1    Witt, H.2    Chandak, G.R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.