Avellino corneal dystrophy.

نویسندگان

  • M J Lucarelli
  • A P Adamis
چکیده

LABORATORY DATA chromosomal assignment chromosome 5q localization gene, structural-functional anomalies gene analysis-DNA analysis TGFBI (CSD2) (CDGG1) (CSD) (BIGH3) transforming growth factor, beta-induced 68kD, gene chr.5q31 OCULAR DISORDERS corneal defects not including dystrophy isolated ocular defects: corneal dystrophy, isolated defects corneal dystrophy, isolated defect corneal dystrophy, granular corneal dystrophy, lattice eye, motility defects strabismus convergent, esotropia, misalignment of the visual axes of the eyes OTHERS inheritance inheritance, autosomal dominant PRENATAL-NEONATAL MODIFIED DATA foetal changes foetal changes, recognized by laboratory data prenatal diagnosis prenatal diagnosis, molecular

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A clinical, histopathological, and genetic study of Avellino corneal dystrophy in British families.

AIMS To establish a clinical, histopathological, and genetic diagnosis in two unrelated British families with Avellino corneal dystrophy (ACD). METHODS Genomic DNA was extracted from peripheral blood leucocytes of all members participating in the study. Exons 4 and 12 of the human transforming growth factor beta induced (BIGH3) gene were amplified by polymerase chain reaction. The mutation an...

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عنوان ژورنال:
  • Archives of ophthalmology

دوره 112 3  شماره 

صفحات  -

تاریخ انتشار 1994