Bibliographic Citation
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DOI | http://dx.doi.org/10.1016/0888-7543(95)80213-6 |
Title | Cornea plana congenita gene assigned to the long arm of chromosome 12 by linkage analysis |
Creator/Author | Tahvanainen, E. ; Karila, E. ; Ranta, S. [Univ. of Helsinki (Finland)][and others] |
Publication Date | 1995 Mar 20 |
OSTI Identifier | OSTI ID: 219892 |
Other Number(s) | GNMCEP; ISSN 0888-7543 |
Resource Type | Journal Article |
Resource Relation | Genomics ; VOL. 26 ; ISSUE: 2 ; PBD: 20 Mar 1995 |
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 |
Description/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. |
Country of Publication | United States |
Language | English |
Format | pp. 290-293 ; PL: |
System Entry Date | 2001 May 03 |
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