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Long-range cis-regulatory elements controlling GDF6 expression are essential for ear development

Long-range cis-regulatory elements controlling GDF6 expression are essential for ear development

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2431835311

Long-range cis-regulatory elements controlling GDF6 expression are essential for ear development

About this item

Full title

Long-range cis-regulatory elements controlling GDF6 expression are essential for ear development

Publisher

Ann Arbor: American Society for Clinical Investigation

Journal title

The Journal of clinical investigation, 2020-08, Vol.130 (8), p.4213-4217

Language

English

Formats

Publication information

Publisher

Ann Arbor: American Society for Clinical Investigation

More information

Scope and Contents

Contents

Molecular mechanisms governing the development of the mammalian cochlea, the hearing organ, remain largely unknown. Through genome sequencing in 3 subjects from 2 families with nonsyndromic cochlear aplasia, we identified homozygous 221-kb and 338-kb deletions in a noncoding region on chromosome 8 with an approximately 200-kb overlapping section. G...

Alternative Titles

Full title

Long-range cis-regulatory elements controlling GDF6 expression are essential for ear development

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_journals_2431835311

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2431835311

Other Identifiers

ISSN

0021-9738

E-ISSN

1558-8238

DOI

10.1172/JCH36951

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