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The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two...

The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1708482466

The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families

About this item

Full title

The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families

Publisher

United States: Public Library of Science

Journal title

PloS one, 2015-08, Vol.10 (8), p.e0129631-e0129631

Language

English

Formats

Publication information

Publisher

United States: Public Library of Science

More information

Scope and Contents

Contents

Cognitive impairment or intellectual disability (ID) is a widespread neurodevelopmental disorder characterized by low IQ (below 70). ID is genetically heterogeneous and is estimated to affect 1-3% of the world's population. In affected children from consanguineous families, autosomal recessive inheritance is common, and identifying the underlying g...

Alternative Titles

Full title

The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_plos_journals_1708482466

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1708482466

Other Identifiers

ISSN

1932-6203

E-ISSN

1932-6203

DOI

10.1371/journal.pone.0129631

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