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INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, ISSN 0146-0404, 07/2019, Volume 60, Issue 8, pp. 2822 - 2835
PURPOSE. To compare phenotype variability in retinitis pigmentosa patients with recessive and dominant mutations in the SNRNP200 gene. METHODS. In a... 
genotype phenotype correlation | MISSENSE SUBSTITUTIONS | ISCEV STANDARD | MOLECULAR DIAGNOSIS | DYSTROPHY | FAMILIES | SERVER | GENES | retinitis pigmentosa | OPHTHALMOLOGY | MUTATIONS | SNRNP200 | autosomal dominant | PROBANDS | autosomal recessive
Journal Article
Human Gene Therapy, ISSN 1043-0342, 04/2012, Volume 23, Issue 4, pp. 367 - 376
Journal Article
Human Genetics, ISSN 0340-6717, 2004, Volume 85, Issue 6, pp. 635 - 642
The clinical course of defective vision and blindness has been investigated in relation to different modes of genetic transmission in a large series of 93... 
GENETICS & HEREDITY | Prospective Studies | Age Factors | Humans | Middle Aged | Sex | Child, Preschool | Retinitis Pigmentosa - genetics | Male | Genes, Recessive | Genes, Dominant | Pedigree | Adolescent | X Chromosome | Adult | Female | Child | Genetic Linkage | Index Medicus
Journal Article
Molecular Vision, ISSN 1090-0535, 03/2015, Volume 21, pp. 236 - 243
Purpose: To investigate the molecular basis of retinitis pigmentosa in two consanguineous families of Pakistani origin with multiple affected members. Methods:... 
CERKL | GENE | CONE-ROD DYSTROPHY | BIOCHEMISTRY & MOLECULAR BIOLOGY | DISEASE | FRAMEWORK | OPHTHALMOLOGY | RETINAL DYSTROPHIES | ABCR | REVEALS | RPGR | Index Medicus
Journal Article