Medical College of Wisconsin
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Next-generation sequencing facilitates the diagnosis in a child with twinkle mutations causing cholestatic liver failure. J Pediatr Gastroenterol Nutr 2012 Feb;54(2):291-4

Date

06/18/2011

Pubmed ID

21681116

DOI

10.1097/MPG.0b013e318227e53c

Scopus ID

2-s2.0-84856257607 (requires institutional sign-in at Scopus site)   35 Citations

Author List

Goh V, Helbling D, Biank V, Jarzembowski J, Dimmock D

Author

Jason A. Jarzembowski MD, PhD Sr Associate Dean, CEO CSG, Professor in the Pathology department at Medical College of Wisconsin




MESH terms used to index this publication - Major topics in bold

Cholestasis
DNA Helicases
DNA Mutational Analysis
Fanconi Syndrome
Female
Genetic Markers
Heterozygote
Humans
Infant, Newborn
Liver Failure, Acute
Mitochondrial Proteins
Point Mutation