A Novel Homozygous Mutation of the Acid-Labile Subunit (IGFALS) Gene in a Male Adolescent
A Novel Homozygous Mutation of the Acid-Labile Subunit (IGFALS) Gene in a Male Adolescent
About this item
Full title
Author / Creator
Publisher
Turkey: Galenos Yayinevi Tic. Ltd
Journal title
Language
English
Formats
Publication information
Publisher
Turkey: Galenos Yayinevi Tic. Ltd
Subjects
More information
Scope and Contents
Contents
Acid-labile subunit (ALS) forms ternary complexes with insulin like growth factor-1 (IGF-1) and IGF-binding protein-3 (IGFBP-3) and is essential for normal circulating IGF-1 levels. The
gene encodes the ALS and mutations in
cause ALS deficiency. We describe a patient with ALS deficiency with a novel homozygous frameshift mutation in
presen...
Alternative Titles
Full title
A Novel Homozygous Mutation of the Acid-Labile Subunit (IGFALS) Gene in a Male Adolescent
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_9edcc96ebcef4d3a88fc2a94832b37f6
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_9edcc96ebcef4d3a88fc2a94832b37f6
Other Identifiers
ISSN
1308-5727
E-ISSN
1308-5735
DOI
10.4274/jcrpe.galenos.2019.2018.0301
