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Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 07/2018, Volume 59, Issue 8, pp. 3220 - 3231
Journal Article
Molecular Therapy - Nucleic Acids, ISSN 2162-2531, 2012, Volume 1, Issue 3, pp. e14 - e14
Leber congenital amaurosis (LCA) is the most severe form of inherited retinal degeneration, with an onset in the first year of life. The most frequent mutation... 
AON | LCA | genetic therapy | CEP290 | antisense oligonucleotides | Genetic therapy | Antisense oligonucleotides | MEDICINE, RESEARCH & EXPERIMENTAL | Original
Journal Article
Journal Article
Journal Article
Human Genetics, ISSN 0340-6717, 12/1994, Volume 94, Issue 6, pp. 616 - 620
The hyperimmunoglobulinemia D and periodic fever (hyper-IgD) syndrome is typified by recurrent febrile attacks with abdominal distress, joint involvement... 
COMPLEX | LINKAGE ANALYSIS | LOCUS | DNA | GENETICS & HEREDITY
Journal Article
Human Genetics, ISSN 0340-6717, 1999, Volume 104, Issue 1, pp. 73 - 76
Linkage analysis was performed on a large Dutch family with autosomal dominant retinitis pigmentosa. Linkage was found to the RP17 locus on chromosome 17q22,... 
RHODOPSIN GENE | LOCALIZATION | MUTATIONS | LOCUS | GENETICS & HEREDITY | Haplotypes | Humans | Retinitis Pigmentosa - genetics | Male | Genetic Markers | Chromosomes, Human, Pair 17 - genetics | Phenotype | Pedigree | Recombination, Genetic | Chromosome Mapping - methods | Female | Genes, Dominant - genetics | Genetic Linkage | Index Medicus
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 2012, Volume 91, Issue 6, pp. 1073 - 1081
Journal Article
Nature Genetics, ISSN 1061-4036, 1999, Volume 22, Issue 2, pp. 178 - 181
Hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS; MIM 260920) is a rare, apparently monogenic, autosomal recessive disorder characterized by... 
ATTACKS | FAMILIAL HIBERNIAN FEVER | CLINICAL SPECTRUM | ACIDURIA | GENETICS & HEREDITY | HYPERIMMUNOGLOBULINEMIA-D | 12P13 | IDENTIFICATION | LINKAGE | MVK gene | familial Mediterranean fever | periodic fever syndrome | hyperimmunoglobulinemia D | familial Hibernian fever | HIDS gene
Journal Article
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