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HUMAN MUTATION, ISSN 1059-7794, 08/2007, Volume 28, Issue 8, pp. 781 - 789
The usherin gene (USH2A) has been screened for mutations causing Usher syndrome type II (USH2). Two protein isoforms have been identified: a short isoform of... 
usherin | PROTEIN | CRYSTAL-STRUCTURE | STABILITY | RECESSIVE RETINITIS-PIGMENTOSA | IDENTIFICATION | USH2A | USH2A GENE | MODELS | SEQUENCE | GENETICS & HEREDITY | MUTATIONS | BINDING | usher syndrome
Journal Article
Experimental Eye Research, ISSN 0014-4835, 08/2018, Volume 173, pp. 148 - 159
Journal Article
Molecular Biology and Evolution, ISSN 0737-4038, 07/2012, Volume 29, Issue 7, pp. 1823 - 1836
Journal Article
International Journal of Audiology, ISSN 1499-2027, 2013, Volume 52, Issue 12, p. 832
Objective: The purpose of this study was to compare the genotype/phenotype relationship between siblings with identical USH2A pathologic mutations and the... 
Usherin | Retinitis pigmentosa | Otorhinolaryngology | Genotype-phenotype correlation | Hereditary hearing loss | USH2A | Oto-rino-laryngologi
Journal Article
Research Journal of Pharmacy and Technology, ISSN 0974-3618, 10/2017, Volume 10, Issue 10, pp. 3365 - 3368
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 2004, Volume 24, Issue 2, pp. 185 - 185
Usher syndrome type II (USH2) is characterised by moderate to severe high-frequency hearing impairment, progressive visual loss due to retinitis pigmentosa and... 
usherin | Usher syndrome | retinitis pigmentosa | hearing impairment | mutation screening | genotype phenotype | USH2A | Dutch | Haplotypes - genetics | Extracellular Matrix Proteins - genetics | Genetic Markers - genetics | Humans | Netherlands - epidemiology | Polymorphism, Single Nucleotide - genetics | DNA Mutational Analysis - methods
Journal Article
Drugs of the Future, ISSN 0377-8282, 2018, Volume 43, Issue 12, pp. 901 - 904
Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal dystrophies which result in progressive degeneration of photoreceptor cells leading to... 
Histone deacetylase 1 (HDAC1) | Serine palmitoyltransferase (SPT) | RHO (rhodopsin) | Sigma non-opioid intracellular receptor 1 (SIG-1R) | USH2A (usherin) | Retinitis pigmentosa | MODELS | PHARMACOLOGY & PHARMACY | VALPROIC ACID | CELL-DEATH
Journal Article
by Ouyang X and Yam D and Hejtmancik J and Jacobson S and Li A and Du L and Angeli S and Kaiser M and Balkany T and Liu X
Clinical Genetics, ISSN 0009-9163, 04/2004, Volume 65, Issue 4, pp. 288 - 293
Journal Article