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Literature DB >> 7573062

Refinement of the OPA1 gene locus on chromosome 3q28-q29 to a region of 2-8 cM, in one Cuban pedigree with autosomal dominant optic atrophy type Kjer.

A Lunkes, U Hartung, C Magariño, M Rodríguez, A Palmero, L Rodríguez, L Heredero, J Weissenbach, J Weber, G Auburger.

Abstract

Entities: Disease Gene

Mesh：

Substances：
DNA, Satellite

Year: 1995 PMID： 7573062 PMCID： PMC1801490

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

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10 in total

1. Infantile optic atrophy with dominant mode of inheritance: a clinical and genetic study of 19 Danish families.

Authors: P KJER
Journal: Acta Ophthalmol Suppl Date: 1959

2. Hereditary optic atrophy with dominant transmission; three Danish families.

Authors: C V LODBERG; A LUND
Journal: Acta Ophthalmol (Copenh) Date: 1950

3. The 1993-94 Généthon human genetic linkage map.

Authors: G Gyapay; J Morissette; A Vignal; C Dib; C Fizames; P Millasseau; S Marc; G Bernardi; M Lathrop; J Weissenbach
Journal: Nat Genet Date: 1994-06 Impact factor: 38.330

4. Diagnostic criteria in cominantly inherited juvenile optic atrophy. A report of three new families.

Authors: D P Smith
Journal: Am J Optom Arch Am Acad Optom Date: 1972-03

5. Hereditary optic atrophies in childhood.

Authors: W Jaeger
Journal: J Genet Hum Date: 1966-12

6. Evidence for human meiotic recombination interference obtained through construction of a short tandem repeat-polymorphism linkage map of chromosome 19.

Authors: J L Weber; Z Wang; K Hansen; M Stephenson; C Kappel; S Salzman; P J Wilkie; B Keats; N C Dracopoli; B F Brandriff
Journal: Am J Hum Genet Date: 1993-11 Impact factor: 11.025

7. A clinicopathologic study of autosomal dominant optic atrophy.

Authors: P B Johnston; R N Gaster; V C Smith; R C Tripathi
Journal: Am J Ophthalmol Date: 1979-11 Impact factor: 5.258

8. Histopathology of eye, optic nerve and brain in a case of dominant optic atrophy.

Authors: P Kjer; O A Jensen; L Klinken
Journal: Acta Ophthalmol (Copenh) Date: 1983-04

9. Visual prognosis in autosomal dominant optic atrophy (Kjer type).

Authors: D Eliott; E I Traboulsi; I H Maumenee
Journal: Am J Ophthalmol Date: 1993-03-15 Impact factor: 5.258

10. Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis.

Authors: H Eiberg; B Kjer; P Kjer; T Rosenberg
Journal: Hum Mol Genet Date: 1994-06 Impact factor: 6.150