A protein-truncating HSD17B13 variant and protection from chronic liver disease

New England Journal of Medicine

Volumn 378, Issue 12, 2018, Pages 1096-1106

  Abul Husn, N S ^a   Cheng, X ^b   Li, A H ^a   Xin, Y ^b   Schurmann, C ^a   Stevis, P ^b   Liu, Y ^b   Kozlitina, J ^c   Stender, S ^c   Wood, G C ^d   Stepanchick, A N ^d   Still, M D ^d   McCarthy, S ^a   O'Dushlaine, C ^a   Packer, J S ^a   Balasubramanian, S ^a   Gosalia, N ^a   Esopi, D ^b   Kim, S Y ^b   Mukherjee, S ^a   Lopez, A E ^a   Fuller, E D ^a   Penn, J ^a   Chu, X ^d   Luo, J Z ^d   Mirshahi, U L ^d   Carey, D J ^d   Still, C D ^d   Feldman, M D ^e   Small, A ^e   Damrauer, S M ^e   Rader, D J ^e   Zambrowicz, B ^b   Olson, W ^b   Murphy, A J ^b   Borecki, I B ^a   Shuldiner, A R ^a   Reid, J G ^a   Overton, J D ^a   Yancopoulos, G D ^b   Hobbs, H H ^c   Cohen, J C ^c   Gottesman, O ^a   Teslovich, T M ^a   Baras, A ^a   Mirshahi, T ^d   Gromada, J ^b   Dewey, F E ^a   more..

^a AB)   (United States)

^b REGENERON PHARMACEUTICALS INC   (United States)

^c UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^d GEISINGER HEALTH SYSTEM   (United States)

^e UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; BIOLOGICAL MARKER;

BLOOD; CHRONIC DISEASE; DISEASE EXACERBATION; FATTY LIVER; FEMALE; GENETIC PREDISPOSITION; GENETIC VARIATION; GENETICS; GENOTYPE; HUMAN; LIVER; LIVER DISEASE; LOSS OF FUNCTION MUTATION; MALE; PATHOLOGY; SEQUENCE ANALYSIS; STATISTICAL MODEL; WHOLE EXOME SEQUENCING;

ALANINE TRANSAMINASE; ASPARTATE AMINOTRANSFERASES; BIOMARKERS; CHRONIC DISEASE; DISEASE PROGRESSION; FATTY LIVER; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOTYPE; HUMANS; LINEAR MODELS; LIVER; LIVER DISEASES; LOSS OF FUNCTION MUTATION; MALE; SEQUENCE ANALYSIS, RNA; WHOLE EXOME SEQUENCING;

EID: 85044426020     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa1712191     Document Type: Article

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