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Details on Person Riazuddin, Sheikh
| Class:Id | Person:3223216 |
| _displayName | Riazuddin, Sheikh |
| _timestamp | 2013-03-25 16:42:25 |
| created | [InstanceEdit:3223221] Jassal, Bijay, 2013-03-25 |
| firstname | Sheikh |
| initial | S |
| modified | [InstanceEdit:3223246] Jassal, B, 2013-03-25 |
| surname | Riazuddin |
| (author) | [LiteratureReference:3223208] A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness [LiteratureReference:8955009] Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans [LiteratureReference:9662987] Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus [LiteratureReference:9664678] The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15 [LiteratureReference:9838310] Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease [LiteratureReference:9852607] New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder |
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No pathways have been reviewed or authored by Riazuddin, Sheikh (3223216)