Screening for carriers of the avian cartilage proteoglycan core protein defect, nanomelia, by denaturing gradient gel electrophoresis.

Abstract excerpt

The avian mutation, nanomelia, is an autosomal recessive embryonic lethal. Homozygous embryos show hypoplasia of the limbs and a parrot-like beak. Biochemical studies have associated this phenotype with the absence of the major cartilage-specific proteoglycan core protein. In a previous study, a DNA polymorphism was identified at the 3' end of the core protein gene by using denaturing gradient gel...

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