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Human Mutation, ISSN 1059-7794, 1999, Volume 13, Issue 2, pp. 141 - 145
Journal Article
Genome research, ISSN 1088-9051, 1997, Volume 7, Issue 8, pp. 830 - 834
Pseudoxanthoma elasticum (PXE) is a heritable systemic disorder characterized by calcification of the elastic fibers of the connective tissue. Symptoms are... 
Haplotypes | Genes, Recessive - genetics | Humans | Male | Chromosome Mapping | Netherlands | DNA - analysis | Pedigree | Pseudoxanthoma Elasticum - genetics | Female | Heterozygote | Chromosomes, Human, Pair 16 - genetics | Genetic Linkage | Index Medicus | Letters
Journal Article
Human molecular genetics, ISSN 0964-6906, 1995, Volume 4, Issue 12, pp. 2319 - 2325
The locus for ocular albinism type 1 (OA1) has been assigned to the Xp22.3 region through both linkage and deletion mapping. The disorder was found to be... 
Albinism, Ocular - genetics | Dinucleotide Repeats | Membrane Proteins - genetics | Eye Proteins - chemistry | Molecular Sequence Data | DNA - genetics | Membrane Proteins - chemistry | Base Sequence | X Chromosome | Protein Conformation | Eye Proteins - genetics | Membrane Glycoproteins | Mutation | Index Medicus
Journal Article
Human mutation, ISSN 1059-7794, 1999, Volume 13, Issue 2, pp. 141 - 145
We have identified a novel RPGR gene mutation in a large Dutch family with X-linked retinitis pigmentosa (RP3). In affected members, a G-->T transversion was... 
splicing | RP3 | mutation detection | GENETICS & HEREDITY | Humans | Retinitis Pigmentosa - genetics | Male | Polymorphism, Single-Stranded Conformational | Carrier Proteins - genetics | Pedigree | RNA Splicing - genetics | Polymerase Chain Reaction | Female | Heterozygote | Eye Proteins | X Chromosome - genetics | Frameshift Mutation - genetics | Genetic Linkage | Index Medicus
Journal Article
Survey of Ophthalmology, ISSN 0039-6257, 01/1999, Volume 43, Issue 4, pp. 321 - 334
Journal Article
Human Mutation, ISSN 1059-7794, 1999, Volume 13, Issue 2, pp. 141 - 145
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 1996, Volume 4, Issue 2, pp. 101 - 104
Journal Article
British Journal of Ophthalmology, ISSN 0007-1161, 1995, Volume 79, Issue 7, pp. 683 - 686
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 10/1996, Volume 33, Issue 10, pp. 869 - 872
Journal Article
Human molecular genetics, ISSN 0964-6906, 1995, Volume 4, Issue 5, pp. 931 - 935
Journal Article
Human Genetics, ISSN 0340-6717, 1997, Volume 101, Issue 2, pp. 235 - 237
Journal Article
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