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Article

Genetics of Hearing Impairment in North-Eastern Romania-A Cost-Effective Improved Diagnosis and Literature Review.

Genes - 15 Dec 2020

Resmerita Irina, Cozma Romica Sebastian, Popescu Roxana, Radulescu Luminita Mihaela, Panzaru Monica Cristina, Butnariu Lacramioara Ionela, Caba Lavinia, Ilie Ovidiu-Dumitru, Gavril Eva-Cristiana, Gorduza Eusebiu Vlad, Rusu Cristina

Abstract excerpt

BACKGROUND: We have investigated the main genetic causes for non-syndromic hearing impairment (NSHI) in the hearing impairment individuals from the North-Eastern Romania and proposed a cost-effective diagnosis protocol. METHODS: MLPA followed by Sanger Sequencing were used for all 291 patients included in this study. RESULTS: MLPA revealed abnormal results in 141 cases (48.45%): 57 (40.5%) were c.35delG...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33333757
DOI: 10.3390/genes11121506
PMCID: PMC7765194

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