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[Current status of linkage studies for gene localization in corneal dystrophies].

作者信息

Lisch W, Weidle E G, Emmig C T, Kömpf J, Baur M P

机构信息

Abteilung Allgemeine Augenheilkunde mit Poliklinik, Universitäts-Augenklinik, Tübingen, Bundesrepublik Deutschland.

出版信息

Fortschr Ophthalmol. 1991;88(2):105-6.

PMID:1855722
Abstract

Corneal dystrophies with primarily autosomal dominant inheritance have been clearly identified both histologically and histochemically. No information is available to date on the causal enzymatic protein defect of the individual forms of dystrophy. By using linkage analysis to study families with various corneal dystrophies, an attempt is being made with polymorphous markers to find an indirect indication for localization in a chromosome. Numerous factors which exclude linkage can be named for granular, lattice and Schnyder's corneal dystrophy. Our linkage analysis studies of a second family with Schnyder's dystrophy support our indications of linkage with the sites for adenylate kinase (AK1) and the AB0 blood groups on chromosome 9.

摘要

相似文献

1
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Fortschr Ophthalmol. 1991;88(2):105-6.
2
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引用本文的文献

1
[Schnyder's crystalline corneal dystrophy. Further narrowing of the linkage interval at chromosome 1p34.1-p36?].
Ophthalmologe. 2003 Nov;100(11):979-83. doi: 10.1007/s00347-003-0883-2.