Phenotypic Variability in a Family With Pancreatitis and Cystic Fibrosis Sharing Common Mild CFTR Mutation Report on CFTR Mutations and Their Phenotypic Variability

被引:3
作者
Alghisi, Federico [1 ]
Bella, Sergio [1 ]
Lucidi, Vincenzina [1 ]
Angioni, Adriano [2 ]
Tomaiuolo, Anna C. [2 ]
D'Apice, Maria R. [3 ]
Gambardella, Stefano [3 ]
Novelli, Giuseppe [3 ]
机构
[1] Bambino Gesu Pediat Hosp, Unit Cyst Fibrous, Rome, Italy
[2] Bambino Gesu Pediat Hosp, Lab Cystogenet & Mol Genet, Rome, Italy
[3] Tor Vergara Univ Rome, Dept Biopathol & Diagnost Imaging, Rome, Italy
关键词
TRANSMEMBRANE CONDUCTANCE REGULATOR; GENOTYPE;
D O I
10.1097/MPA.0b013e3181671b9c
中图分类号
R57 [消化系及腹部疾病];
学科分类号
摘要
引用
收藏
页码:109 / 110
页数:2
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