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Article

Frequency of GJB2 and del(GJB6-D13S1830) mutations among an Ecuadorian mestizo population.

International journal of pediatric otorhinolaryngology - 1 Oct 2014

Paz-y-Miño César, Beaty Doyle, López-Cortés Andrés, Proaño Indira

Abstract excerpt

OBJECTIVE: The frequency of GJB2 mutations and of the del(GJB6-D13S1830) mutation has not been established among the Ecuadorian mestizo population diagnosed with autosomal recessive non-syndromic hearing loss. A genetic analysis was therefore designed in order to do so. METHODS: The sample population included 111 subjects of which 26 were autosomal recessive non-syndromic hearing loss probands. Posterior to PCR...

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Source

Identifiers

PMID: 25085072
DOI: 10.1016/j.ijporl.2014.07.014

Genes

GJB2
GJB6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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