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■ Search Result - Abbreviation : USH1B

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Abbreviation: USH1B
Appearance Frequency: 18 time(s)
Long forms: 4

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Long Form No. Long Form Research Area Co-occurring Abbreviation PubMed/MEDLINE Info. (Year, Title)
Usher syndrome type 1B
(13 times)
Genetics, Medical
(5 times)
RPE (2 times)
ARNSHL (1 time)
CHS (1 time)
1996 Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.
Usher syndrome 1B
(3 times)
Cell Biology
(1 time)
RPE (2 times)
AAV (1 time)
ERG (1 time)
1997 Myosin VIIa, the product of the Usher 1B syndrome gene, is concentrated in the connecting cilia of photoreceptor cells.
USH1 genes have been identified: MYO7A
(1 time)
Eye Diseases
(1 time)
RP (1 time)
USH (1 time)
2011 An update on the genetics of usher syndrome.
Usher type 1B
(1 time)
Molecular Biology
(1 time)
HL (1 time)
2010 Reinforcement of a minor alternative splicing event in MYO7A due to a missense mutation results in a mild form of retinopathy and deafness.