Elucidation of the gene defect in Marfan syndrome. Success by two complementary research strategies.

doi:10.1016/0014-5793(92)80913-2

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Article

Elucidation of the gene defect in Marfan syndrome. Success by two complementary research strategies.

FEBS letters - 27 Jul 1992

Peltonen L, Kainulainen K

Abstract excerpt

Marfan syndrome, which is characterized by manifestations in the skeletal, ocular and cardiovascular systems, is one of the most common inherited connective-tissue disorders. The independently performed genetic assignment of the Marfan locus and classical biochemical and immunohistochemical analy...

Topics

Genetic Linkage
Humans
Marfan Syndrome
Mutation
Phenotype

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