The USH1C 216G-->A splice-site mutation results in a 35-base-pair deletion.
about
Rescue of hearing and vestibular function by antisense oligonucleotides in a mouse model of human deafness.Deafness and retinal degeneration in a novel USH1C knock-in mouse modelGene therapy restores auditory and vestibular function in a mouse model of Usher syndrome type 1c.Inherited hearing loss: molecular genetics and diagnostic testing.Splicing modulation therapy in the treatment of genetic diseases.Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population.Delayed diagnosis of a patient with Usher syndrome 1C in a Louisiana Acadian family highlights the necessity of timely genetic testing for the diagnosis and management of congenital hearing loss.Rescue of Outer Hair Cells with Antisense Oligonucleotides in Usher Mice Is Dependent on Age of Treatment.Rescue of peripheral vestibular function in Usher syndrome mice using a splice-switching antisense oligonucleotide.
P2860
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P1343
Q30450036-05B6C7B5-6A3B-4043-87C6-20562942EDF7Q30476608-B014F2BF-A7AA-48FC-A63A-1DDB867568C1Q34550660-04019B26-AFA4-44F5-9CD7-83CE187D3FA9Q38089731-523F0599-4A28-4CA0-878B-BEE4C0179A7FQ38288237-E66A6336-A6BC-43E3-94D8-C971AB07E2F4Q42741655-C1DC6EC4-FD01-44A4-BEDF-735425C78AA8Q47138994-8EAAF930-2778-4FD9-84B7-3BDE7AB096D0Q49180117-BB679B58-2DC1-47C7-8646-A805EAC55CCEQ50345053-8A916E3A-8F4A-45EF-8B80-41EF27F0C643
P2860
The USH1C 216G-->A splice-site mutation results in a 35-base-pair deletion.
description
2004 nî lūn-bûn
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name
The USH1C 216G-->A splice-site mutation results in a 35-base-pair deletion.
@en
type
label
The USH1C 216G-->A splice-site mutation results in a 35-base-pair deletion.
@en
prefLabel
The USH1C 216G-->A splice-site mutation results in a 35-base-pair deletion.
@en
P2093
P1433
P1476
The USH1C 216G-->A splice-site mutation results in a 35-base-pair deletion.
@en
P2093
Bronya Keats
Grace Athas
Jennifer Lentz
Prescott Deininger
San-San Ng
Sevtap Savas
P2888
P304
P356
10.1007/S00439-004-1217-4
P577
2004-12-01T00:00:00Z
P6179
1018878230