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Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing imp...

Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing imp...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8612923

Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing impairment

About this item

Full title

Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing impairment

Publisher

England: Nature Publishing Group

Journal title

Journal of human genetics, 2021-12, Vol.66 (12), p.1169-1175

Language

English

Formats

Publication information

Publisher

England: Nature Publishing Group

More information

Scope and Contents

Contents

Congenital hearing impairment (HI) is genetically heterogeneous making its genetic diagnosis challenging. Investigation of novel HI genes and variants will enhance our understanding of the molecular mechanisms and to aid genetic diagnosis. We performed exome sequencing and analysis using DNA samples from affected members of two large families from...

Alternative Titles

Full title

Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing impairment

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8612923

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8612923

Other Identifiers

ISSN

1434-5161

E-ISSN

1435-232X

DOI

10.1038/s10038-021-00954-6

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