Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan.
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The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani PopulationsEvidence for genotype-phenotype correlation for OTOF mutations.A novel otoferlin splice-site mutation in siblings with auditory neuropathy spectrum disorder.Identification of the hair cell soma-1 antigen, HCS-1, as otoferlin.Screening mutations of OTOF gene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathyCalcium regulates molecular interactions of otoferlin with soluble NSF attachment protein receptor (SNARE) proteins required for hair cell exocytosis.Novel compound heterozygous mutations in the OTOF Gene identified by whole-exome sequencing in auditory neuropathy spectrum disorder.OTOF mutation screening in Japanese severe to profound recessive hearing loss patients.Variants of OTOF and PJVK genes in Chinese patients with auditory neuropathy spectrum disorder.Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia).Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population.Refinement of Molecular Diagnostic Protocol of Auditory Neuropathy Spectrum Disorder: Disclosure of Significant Level of Etiologic Homogeneity in Koreans and Its Clinical Implications.Structure and development of cochlear afferent innervation in mammals.Outcomes of cochlear implantation for the patients with specific genetic etiologies: a systematic literature review.Genetic Linkage Analysis of DFNB3, DFNB9 and DFNB21 Loci in GJB2 Negative Families with Autosomal Recessive Non-syndromic Hearing Loss.Ferlins Show Tissue-Specific Expression and Segregate as Plasma Membrane/Late Endosomal or Trans-Golgi/Recycling Ferlins.Research of genetic bases of hereditary non-syndromic hearing loss.Genetic Testing of Non-familial Deaf Patients for CIB2 and GJB2 Mutations: Phenotype and Genetic Counselling.Whole-exome sequencing identifies common and rare variant metabolic QTLs in a Middle Eastern population.Otoferlin is a multivalent calcium-sensitive scaffold linking SNAREs and calcium channels.Mutations in OTOF, CLDN14 & SLC26A4 genes as major causes of hearing impairment in Dhadkai village, Jammu & Kashmir, India.High frequency of OTOF mutations in Chinese infants with congenital auditory neuropathy spectrum disorder.Elongated EABR wave latencies observed in patients with auditory neuropathy caused by mutation
P2860
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P2860
Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan.
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2009 nî lūn-bûn
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2009年の論文
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2009年学术文章
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2009年学术文章
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2009年学术文章
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2009年學術文章
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name
Identities and frequencies of ...... ng DFNB9 deafness in Pakistan.
@ast
Identities and frequencies of ...... ng DFNB9 deafness in Pakistan.
@en
type
label
Identities and frequencies of ...... ng DFNB9 deafness in Pakistan.
@ast
Identities and frequencies of ...... ng DFNB9 deafness in Pakistan.
@en
prefLabel
Identities and frequencies of ...... ng DFNB9 deafness in Pakistan.
@ast
Identities and frequencies of ...... ng DFNB9 deafness in Pakistan.
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P2093
P2860
P1433
P1476
Identities and frequencies of ...... ng DFNB9 deafness in Pakistan.
@en
P2093
A J Griffith
M A Bhinder
S Riazuddin
T B Friedman
P2860
P304
P356
10.1111/J.1399-0004.2008.01128.X
P577
2009-03-01T00:00:00Z