Genetic study of congenital bile-duct dilatation identifies de novo and inherited variants in functi...
Genetic study of congenital bile-duct dilatation identifies de novo and inherited variants in functionally related genes
About this item
Full title
Author / Creator
Publisher
England: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
Congenital dilatation of the bile-duct (CDD) is a rare, mostly sporadic, disorder that results in bile retention with severe associated complications. CDD affects mainly Asians. To our knowledge, no genetic study has ever been conducted.
We aim to identify genetic risk factors by a "trio-based" exome-sequencing approach, whereby 31 CDD probands...
Alternative Titles
Full title
Genetic study of congenital bile-duct dilatation identifies de novo and inherited variants in functionally related genes
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5154011
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5154011
Other Identifiers
ISSN
1755-8794
E-ISSN
1755-8794
DOI
10.1186/s12920-016-0236-z
