Mutations in KARS, Encoding Lysyl-tRNA Synthetase, Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB89

Previously, DFNB89, a locus associated with autosomal-recessive nonsyndromic hearing impairment (ARNSHI), was mapped to chromosomal region 16q21–q23.2 in three unrelated, consanguineous Pakistani families. Through whole-exome sequencing of a hearing-impaired individual from each family, missense mut...

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Autors principals: Santos-Cortez, Regie Lyn P., Lee, Kwanghyuk, Azeem, Zahid, Antonellis, Patrick J., Pollock, Lana M., Khan, Saadullah, Irfanullah, Andrade-Elizondo, Paula B., Chiu, Ilene, Adams, Mark D., Basit, Sulman, Smith, Joshua D., Nickerson, Deborah A., McDermott, Brian M., Ahmad, Wasim, Leal, Suzanne M.
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2013
Matèries:
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3710764/
https://ncbi.nlm.nih.gov/pubmed/23768514
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.05.018
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