Pedigree of a Kindred With Transheterozygous PRSS1 R122C and SPINK1 N34S Mutations

被引：2

作者：

Sinha, Amitasha ^{[1
]}

Cotsalas, Deanna ^{[2
]}

Akshintala, Venkata S. ^{[1
]}

Afghani, Elham ^{[1
]}

Singh, Vikesh K. ^{[3
]}

机构：

[1] Johns Hopkins Med Inst, Div Gastroenterol, Baltimore, MD 21205 USA

[2] Johns Hopkins Univ, Krieger Sch Arts & Sci, Baltimore, MD USA

[3] Johns Hopkins Med Inst, Div Gastroenterol, Pancreatitis Ctr, Baltimore, MD 21205 USA

来源：

关键词：

HEREDITARY PANCREATITIS; CATIONIC TRYPSINOGEN; VARIANTS; PENETRANCE; EXPRESSION;

D O I：

10.1097/MPA.0000000000000149

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

引用

页码：974 / 976

页数：4

共 22 条

[21] The true culprit within the SPINK1 p.N34S-containing haplotype is still at large
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Ferec, Claude
GUT, 2009, 58 (04) : 478 - 480
[22] Meta-analysis of the impact of SPINK1 p.N34S gene variation in Caucasic patients with chronic pancreatitis. An update
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Bianco, Margherita
Zuppardo, Raffaella Alessia
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Mannucci, Alessandro
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Leandro, Gioacchino
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