Prioritized sequencing of the second exon of MYO15A reveals a new mutation segregating in a Pakistani family with moderate to severe hearing loss
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The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani PopulationsIdentification of a Novel MYO15A Mutation in a Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss.Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean familiesIdentification and Clinical Implications of Novel MYO15A Mutations in a Non-consanguineous Korean Family by Targeted Exome Sequencing.The 133-kDa N-terminal domain enables myosin 15 to maintain mechanotransducing stereocilia and is essential for hearingUnraveling of Enigmatic Hearing-Impaired GJB2 Single Heterozygotes by Massive Parallel Sequencing: DFNB1 or Not?Screening of DFNB3 in Iranian families with autosomal recessive non-syndromic hearing loss reveals a novel pathogenic mutation in the MyTh4 domain of the MYO15A gene in a linked familyMutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness.Genetic causes of moderate to severe hearing loss point to modifiers.Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing.Mutations in the MYO15A gene are a significant cause of nonsyndromic hearing loss: massively parallel DNA sequencing-based analysis.Three MYO15A Mutations Identified in One Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss.
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P2860
Prioritized sequencing of the second exon of MYO15A reveals a new mutation segregating in a Pakistani family with moderate to severe hearing loss
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2011 nî lūn-bûn
@nan
2011年の論文
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2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
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2011年论文
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2011年论文
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name
Prioritized sequencing of the ...... oderate to severe hearing loss
@ast
Prioritized sequencing of the ...... oderate to severe hearing loss
@en
type
label
Prioritized sequencing of the ...... oderate to severe hearing loss
@ast
Prioritized sequencing of the ...... oderate to severe hearing loss
@en
prefLabel
Prioritized sequencing of the ...... oderate to severe hearing loss
@ast
Prioritized sequencing of the ...... oderate to severe hearing loss
@en
P2860
P1476
Prioritized sequencing of the ...... oderate to severe hearing loss
@en
P2093
Amara Fatima
Rasheeda Bashir
P2860
P304
P356
10.1016/J.EJMG.2011.12.003
P50
P577
2011-12-30T00:00:00Z