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Next-generation sequencing of patients with congenital anosmia

Next-generation sequencing of patients with congenital anosmia

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5865213

Next-generation sequencing of patients with congenital anosmia

About this item

Full title

Next-generation sequencing of patients with congenital anosmia

Publisher

England: Nature Publishing Group

Journal title

European journal of human genetics : EJHG, 2017-12, Vol.25 (12), p.1377-1387

Language

English

Formats

Publication information

Publisher

England: Nature Publishing Group

More information

Scope and Contents

Contents

We performed whole exome or genome sequencing in eight multiply affected families with ostensibly isolated congenital anosmia. Hypothesis-free analyses based on the assumption of fully penetrant recessive/dominant/X-linked models obtained no strong single candidate variant in any of these families. In total, these eight families showed 548 rare seg...

Alternative Titles

Full title

Next-generation sequencing of patients with congenital anosmia

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5865213

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5865213

Other Identifiers

ISSN

1018-4813

E-ISSN

1476-5438

DOI

10.1038/s41431-017-0014-1

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