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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 Date1995 Mar 20
OSTI IdentifierOSTI ID: 219892
Other Number(s)GNMCEP; ISSN 0888-7543
Resource TypeJournal Article
Resource RelationGenomics ; VOL. 26 ; ISSUE: 2 ; PBD: 20 Mar 1995
Subject55 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 PublicationUnited States
LanguageEnglish
Formatpp. 290-293 ; PL:
System Entry Date2001 May 03

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