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Article

Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families.

Orphanet journal of rare diseases - 3 Sept 2012

Baek Jeong-In, Oh Se-Kyung, Kim Dong-Bin, Choi Soo-Young, Kim Un-Kyung, Lee Kyu-Yup, Lee Sang-Heun

Abstract excerpt

BACKGROUND: Hereditary hearing loss is one of the most common heterogeneous disorders, and genetic variants that can cause hearing loss have been identified in over sixty genes. Most of these hearing loss genes have been detected using classical genetic methods, typically starting with linkage analysis in large families with hereditary hearing loss. However, these classical strategies are not well suited for...

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Identifiers

PMID: 22938506
DOI: 10.1186/1750-1172-7-60
PMCID: PMC3495859

Genes

ACTG1
DIAPH1
EYA4

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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