Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization

Elisabetta Tabolacci; Clelia Molinario; Giuseppe Marangi; Veronica Nobile; Vincenzo Arena; Marisa I. Mendes; Desiree E. C. Smith; Gajja S. Salomons; Milena Tana; Simonetta Costa; Giovanni Vento; Maurizio Genuardi

doi:10.1111/cge.13893

Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization

Elisabetta Tabolacci, Clelia Molinario, Giuseppe Marangi, Veronica Nobile, Vincenzo Arena, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Milena Tana, Simonetta Costa, Giovanni Vento, Maurizio Genuardi

Vrije Universiteit Amsterdam

Research output: Contribution to journal › Article

Abstract

No abstract available

Original language	English
Pages (from-to)	601-603
Number of pages	3
Journal	Clinical Genetics
Volume	2021
DOIs	https://doi.org/10.1111/cge.13893
Publication status	Published - 2021

Keywords

LARS1

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10.1111/cge.13893

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Tabolacci, E., Molinario, C., Marangi, G., Nobile, V., Arena, V., Mendes, M. I., Smith, D. E. C., Salomons, G. S., Tana, M., Costa, S., Vento, G., & Genuardi, M. (2021). Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization. Clinical Genetics, 2021, 601-603. https://doi.org/10.1111/cge.13893

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title = "Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization",

abstract = "No abstract available",

keywords = "LARS1, LARS1",

author = "Elisabetta Tabolacci and Clelia Molinario and Giuseppe Marangi and Veronica Nobile and Vincenzo Arena and Mendes, {Marisa I.} and Smith, {Desiree E. C.} and Salomons, {Gajja S.} and Milena Tana and Simonetta Costa and Giovanni Vento and Maurizio Genuardi",

year = "2021",

doi = "10.1111/cge.13893",

language = "English",

volume = "2021",

pages = "601--603",

journal = "Clinical Genetics",

issn = "1399-0004",

publisher = "Blackwell Munksgaard:PO Box 2148, Periodicals Department, DK-1016 Copenhagen K Denmark:011 45 33 755913, EMAIL: [email protected], INTERNET: http://www.blackwellmunksgaard.com, Fax: 011 45 77 333377",

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TY - JOUR

T1 - Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization

AU - Tabolacci, Elisabetta

AU - Molinario, Clelia

AU - Marangi, Giuseppe

AU - Nobile, Veronica

AU - Arena, Vincenzo

AU - Mendes, Marisa I.

AU - Smith, Desiree E. C.

AU - Salomons, Gajja S.

AU - Tana, Milena

AU - Costa, Simonetta

AU - Vento, Giovanni

AU - Genuardi, Maurizio

PY - 2021

Y1 - 2021

N2 - No abstract available

AB - No abstract available

KW - LARS1

UR - http://hdl.handle.net/10807/183004

U2 - 10.1111/cge.13893

DO - 10.1111/cge.13893

M3 - Article

SN - 1399-0004

VL - 2021

SP - 601

EP - 603

JO - Clinical Genetics

JF - Clinical Genetics

ER -

Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization

Abstract

Keywords

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