Usher's syndrome type IC: clinical studies and fine-mapping the disease locus.
about
DelGEF, an RCC1-related protein encoded by a gene on chromosome 11p14 critical for two forms of hereditary deafnessDiagnosis and treatment of a severe psychotic illness in a man with dual severe sensory impairments caused by the presence of Usher syndrome.USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.Contig maps and genomic sequencing identify candidate genes in the usher 1C locus.The changing face of Usher syndrome: clinical implications.Genetics and pathological mechanisms of Usher syndrome.Accelerated age-related olfactory decline among type 1 Usher patients.Olfactory loss and dysfunction in ciliopathies: Molecular mechanisms and potential therapies.
P2860
Q22010834-D6A05766-784B-4890-AA7C-E25B01A5E0FEQ33765453-95279F61-51FB-4D01-90FE-06A686AB49ADQ34134919-5BEAC2DA-FA97-4EE4-AE97-2203FCAD2A35Q35020837-CF148563-53C8-49BC-91B7-6E1728A2E393Q36761749-0DE171A5-0BDE-4CE2-B937-D817097F59CCQ37727784-29E70F00-7040-4F9F-953E-1C4B91812380Q41809190-D2AD119B-D8C1-4336-9AAB-A6619A25CBD5Q47557894-5A4BACBE-D628-4BF0-BBD4-CE12EAF3C27E
P2860
Usher's syndrome type IC: clinical studies and fine-mapping the disease locus.
description
1997 nî lūn-bûn
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1997年の論文
@ja
1997年学术文章
@wuu
1997年学术文章
@zh
1997年学术文章
@zh-cn
1997年学术文章
@zh-hans
1997年学术文章
@zh-my
1997年学术文章
@zh-sg
1997年學術文章
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1997年學術文章
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name
Usher's syndrome type IC: clinical studies and fine-mapping the disease locus.
@en
Usher's syndrome type IC: clinical studies and fine-mapping the disease locus.
@nl
type
label
Usher's syndrome type IC: clinical studies and fine-mapping the disease locus.
@en
Usher's syndrome type IC: clinical studies and fine-mapping the disease locus.
@nl
prefLabel
Usher's syndrome type IC: clinical studies and fine-mapping the disease locus.
@en
Usher's syndrome type IC: clinical studies and fine-mapping the disease locus.
@nl
P2093
P2860
P1476
Usher's syndrome type IC: clinical studies and fine-mapping the disease locus.
@en
P2093
J F Hejtmancik
J Marietta
K Fukushima
K S Walters
P2860
P304
P356
10.1177/000348949710600206
P577
1997-02-01T00:00:00Z