Molecular genetic analysis in autosomal dominant keratoconus.

doi:10.1097/00003226-199207000-00005

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Article

Molecular genetic analysis in autosomal dominant keratoconus.

Cornea - 1 Jul 1992

Rabinowitz Y S, Maumenee I H, Lundergan M K, Puffenberger E, Zhu D, Antonarakis S, Francomano C A

Abstract excerpt

Members in three generations of a family whose propositus had keratoconus were examined by biomicroscopy, with a corneoscope and a computer-assisted videophoto-keratoscope. Keratoconus was detected in eight of 15 family members with vertical transmission consistent with autosomal dominant inherit...

Topics

Adult
Aged
Aged, 80 and over
Alleles
Chromosomes, Human, Pair 21
Collagen
DNA
DNA Probes
Genetic Linkage
Haplotypes
Humans
Keratoconus
Middle Aged
Molecular Biology
Pedigree
Polymorphism, Restriction Fragment Length

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