about
Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmoninDefect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafnessMutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathyMutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound DeafnessHigh frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effectsMutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.Hypervulnerability to Sound Exposure through Impaired Adaptive Proliferation of Peroxisomes.DFNB40, a recessive form of sensorineural hearing loss, maps to chromosome 22q11.21-12.1.
P50
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P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Sedigheh Delmaghani
@en
Sedigheh Delmaghani
@es
Sedigheh Delmaghani
@nl
Sedigheh Delmaghani
@sl
type
label
Sedigheh Delmaghani
@en
Sedigheh Delmaghani
@es
Sedigheh Delmaghani
@nl
Sedigheh Delmaghani
@sl
prefLabel
Sedigheh Delmaghani
@en
Sedigheh Delmaghani
@es
Sedigheh Delmaghani
@nl
Sedigheh Delmaghani
@sl
P106
P1153
6507987350
P31
P496
0000-0003-2092-5097