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Title: Cornea plana congenita gene assigned to the long arm of chromosome 12 by linkage analysis

Abstract

We report the mapping of the locus for autosomal recessive cornea plana congenita (CNA2; MIM 217300) by linkage analysis to the approximately 10-cM interval between markers D12S82 and D12S327. The recessively inherited disorder studied here is more severe than dominant forms. Its main manifestations are reduced curvature and hazy limbus of the cornea, opacities in the corneal stroma, and marked corneal arcus at early age. Our results provide a starting point for the positional cloning of CNA2 and the elucidation of the pathogenesis of the disease. 20 refs., 1 fig., 2 tabs.

Authors:
; ;  [1]
  1. Univ. of Helsinki (Finland) [and others
Publication Date:
OSTI Identifier:
219892
Resource Type:
Journal Article
Journal Name:
Genomics
Additional Journal Information:
Journal Volume: 26; Journal Issue: 2; Other Information: PBD: 20 Mar 1995
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; HUMAN CHROMOSOME 12; GENETIC MAPPING; L CODES; GENES; DNA-CLONING; DNA SEQUENCING; SENSE ORGANS DISEASES; DNA HYBRIDIZATION; NUCLEOTIDES; STATISTICS; RECESSIVE MUTATIONS; BIOLOGICAL MARKERS; HEREDITARY DISEASES

Citation Formats

Tahvanainen, E., Karila, E., and Ranta, S. Cornea plana congenita gene assigned to the long arm of chromosome 12 by linkage analysis. United States: N. p., 1995. Web. doi:10.1016/0888-7543(95)80213-6.
Tahvanainen, E., Karila, E., & Ranta, S. Cornea plana congenita gene assigned to the long arm of chromosome 12 by linkage analysis. United States. doi:10.1016/0888-7543(95)80213-6.
Tahvanainen, E., Karila, E., and Ranta, S. Mon . "Cornea plana congenita gene assigned to the long arm of chromosome 12 by linkage analysis". United States. doi:10.1016/0888-7543(95)80213-6.
@article{osti_219892,
title = {Cornea plana congenita gene assigned to the long arm of chromosome 12 by linkage analysis},
author = {Tahvanainen, E. and Karila, E. and Ranta, S.},
abstractNote = {We report the mapping of the locus for autosomal recessive cornea plana congenita (CNA2; MIM 217300) by linkage analysis to the approximately 10-cM interval between markers D12S82 and D12S327. The recessively inherited disorder studied here is more severe than dominant forms. Its main manifestations are reduced curvature and hazy limbus of the cornea, opacities in the corneal stroma, and marked corneal arcus at early age. Our results provide a starting point for the positional cloning of CNA2 and the elucidation of the pathogenesis of the disease. 20 refs., 1 fig., 2 tabs.},
doi = {10.1016/0888-7543(95)80213-6},
journal = {Genomics},
number = 2,
volume = 26,
place = {United States},
year = {1995},
month = {3}
}