High frequency of the N34S mutation in the SPINK1 gene in chronic pancreatitis detected by a new PCR-RFLP assay

被引:28
作者
Plendl, H [1 ]
Siebert, R [1 ]
Steinemann, D [1 ]
Grote, W [1 ]
机构
[1] Univ Hosp, Inst Human Genet, D-24105 Kiel, Germany
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 2001年 / 100卷 / 03期
关键词
D O I
10.1002/ajmg.1287
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:252 / 253
页数:2
相关论文
共 5 条
[1]  
Férec C, 1999, J MED GENET, V36, P228
[2]   SPINK1/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis [J].
Pfützer, RH ;
Barmada, MM ;
Brunskill, APJ ;
Finch, R ;
Hart, PS ;
Neoptolemos, J ;
Furey, WF ;
Whitcomb, DC .
GASTROENTEROLOGY, 2000, 119 (03) :615-623
[3]   Evidence that hereditary pancreatitis is genetically heterogeneous disorder [J].
Ravnik-Glavac, M ;
Dean, M ;
di Sant'Agnese, P ;
Chernick, M ;
Kozelj, M ;
Krizman, I ;
Glavac, D .
PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY, 2000, 439 (03) :R50-R52
[4]   Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene [J].
Whitcomb, DC ;
Gorry, MC ;
Preston, RA ;
Furey, W ;
Sossenheimer, MJ ;
Ulrich, CD ;
Martin, SP ;
Gates, LK ;
Amann, ST ;
Toskes, PP ;
Liddle, R ;
McGrath, K ;
Uomo, G ;
Post, JC ;
Ehrlich, GD .
NATURE GENETICS, 1996, 14 (02) :141-145
[5]   Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis [J].
Witt, H ;
Luck, W ;
Hennies, HC ;
Classen, M ;
Kage, A ;
Lass, U ;
Landt, O ;
Becker, M .
NATURE GENETICS, 2000, 25 (02) :213-216