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The c.42_52del11 mutation in TPRN and progressive hearing loss in a family from Pakistan

The DFNB79 locus harbors TPRN mutations that have been reported in a few families with deafness. Four frameshift mutations in TPRN have been described to cause severe or severe-to-profound hearing loss in Moroccan and Pakistani families, and a single frameshift mutation was associated with progressi...

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מידע ביבליוגרפי
Main Authors: Bashir, Rasheeda, Imtiaz, Ayesha, Fatima, Amara, Alam, Afzaal, Naz, Sadaf
פורמט: Artigo
שפה:Inglês
יצא לאור: 2013
נושאים:
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC3654082/
https://ncbi.nlm.nih.gov/pubmed/23340767
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10528-013-9568-y
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