Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to varian...
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1
About this item
Full title
Author / Creator
Lenz, Dominic , Smith, Desirée E. C. , Crushell, Ellen , Husain, Ralf A. , Salomons, Gajja S. , Alhaddad, Bader , Bernstein, Jonathan A. , Bianzano, Alyssa , Biskup, Saskia , Brennenstuhl, Heiko , Caldari, Dominique , Dikow, Nicola , Haack, Tobias B. , Hanson-Kahn, Andrea , Harting, Inga , Horn, Denise , Hughes, Joanne , Huijberts, Maya , Isidor, Bertrand , Kathemann, Simone , Kopajtich, Robert , Kotzaeridou, Urania , Küry, Sébastien , Lainka, Elke , Laugwitz, Lucia , Lupski, James R. , Posey, Jennifer E. , Reynolds, Claire , Rosenfeld, Jill A. , Schröter, Julian , Vansenne, Fleur , Wagner, Matias , Weiß, Claudia , Wolffenbuttel, Bruce H. R. , Wortmann, Saskia B. , Kölker, Stefan , Hoffmann, Georg F. , Prokisch, Holger , Mendes, Marisa I. and Staufner, Christian
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Purpose
Biallelic variants in
LARS1
, coding for the cytosolic leucyl-tRNA synthetase, cause infantile liver failure syndrome 1 (ILFS1). Since its description in 2012, there has been no systematic analysis of the clinical spectrum and genetic findings.
Methods
Individuals with biallelic variants in
LARS1
were included through a...
Alternative Titles
Full title
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1
Authors, Artists and Contributors
Author / Creator
Smith, Desirée E. C.
Crushell, Ellen
Husain, Ralf A.
Salomons, Gajja S.
Alhaddad, Bader
Bernstein, Jonathan A.
Bianzano, Alyssa
Biskup, Saskia
Brennenstuhl, Heiko
Caldari, Dominique
Dikow, Nicola
Haack, Tobias B.
Hanson-Kahn, Andrea
Harting, Inga
Horn, Denise
Hughes, Joanne
Huijberts, Maya
Isidor, Bertrand
Kathemann, Simone
Kopajtich, Robert
Kotzaeridou, Urania
Küry, Sébastien
Lainka, Elke
Laugwitz, Lucia
Lupski, James R.
Posey, Jennifer E.
Reynolds, Claire
Rosenfeld, Jill A.
Schröter, Julian
Vansenne, Fleur
Wagner, Matias
Weiß, Claudia
Wolffenbuttel, Bruce H. R.
Wortmann, Saskia B.
Kölker, Stefan
Hoffmann, Georg F.
Prokisch, Holger
Mendes, Marisa I.
Staufner, Christian
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_2426539013
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2426539013
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/s41436-020-0904-4
