Whole exome sequencing identifies multiple, complex etiologies in an idiopathic hereditary pancreatitis kindred

Journal of the Pancreas

Volumn 13, Issue 3, 2012, Pages 258-262

  LaRusch, Jessica ^a   Michael Barmada, M ^b   Solomon, Sheila ^a   Whitcomb, David C ^a,b,c  

^a Division of Gastroenterology Hepatology and Nutrition   (United States)

^b Department of Human Genetics ^*  (United States)

^c UNIVERSITY OF PITTSBURGH   (United States)

Author keywords

Chronic; Cystic fibrosis; Cystic fibrosis transmembrane conductance regulator; Dna; Kazal pancreatic; Pancreatitis; Sequence analysis; Trypsin; Trypsin inhibitor

Indexed keywords

APROTININ; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; CFTR GENE; COHORT ANALYSIS; COPY NUMBER VARIATION; DNA SEQUENCE; EXOME; GENE; GENE DELETION; GENE MUTATION; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; HUMAN; IDIOPATHIC HEREDITARY PANCREATITIS; LINKAGE ANALYSIS; PANCREATITIS; PEDIGREE ANALYSIS; PROSPECTIVE STUDY; PRSS1 GENE; SMOKING; SPINK1 GENE; WHOLE EXOME SEQUENCING;

CARRIER PROTEINS; COHORT STUDIES; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; EXOME; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENOTYPE; HUMANS; MALE; PANCREATITIS; PEDIGREE; PROSPECTIVE STUDIES; SEQUENCE ANALYSIS, DNA; TRYPSIN;

EID: 84861315180     PISSN: 15908577     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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