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Scholar Results 1 - 4 of 4 citing Oh: Genotype-phenotype correlation in a family with Arg135Leu rhodopsin retinitis pigmentosa. (0.09 sec) 

Genotype-phenotype correlation of mouse pde6b mutations

- iovs.org
AW Hart, L McKie, JE Morgan, P Gautier, K … - Investigative ophthalmology & visual science, 2005 - ARVO
RESULTS. Point mutations in the seven new alleles of Pde6b were identified:
Three generated premature stop codons, two were missense mutations, and two were
splice mutations. The three stop codon mutants and one of the splice ...
Cited by 18 - Related articles - BL Direct - All 3 versions

Ca2+/recoverin dependent regulation of phosphorylation of the rhodopsin mutant R135L …


II Senin, L Bosch, E Ramon, EY Zernii, J … - Biochemical and Biophysical Research …, 2006 - Elsevier
No single molecular mechanism accounts for the effect of mutations in rhodopsin
associated with retinitis pigmentosa. Here we report on the specific effect of a
Ca 2+ /recoverin upon phosphorylation of the autosomal dominant retinitis ...
Cited by 2 - Related articles - All 3 versions

Phenotype-Genotype Correlations in Autosomal Dominant Retinitis Pigmentosa Caused …

- nih.gov
I Tsui, CL Chou, N Palmer, CS Lin, SH Tsang - Current eye research, 2008 - informahealthcare.com
Purpose: To phenotype a family with RHO (Asp190Asn or D190N) dominantly
inherited retinitis pigmentosa (RP) and to describe an approach to surveying
affected families. Methods: Four patients from a family with a history of ...
Related articles - All 6 versions

[PDF] Multi-Scale AM-FM for lesion Phenotyping on Age-Related Macular Degeneration


ES Barriga, V Murray, C Agurto, MS Pattichis, … - visionquest-bio.com
Abstract — Age-related macular degeneration (AMD) is the most common cause of
visual loss in the United States and is a growing public health problem. The
presence and severity of AMD in current epidemiological studies is detected ...
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