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Cosegregation of hypertrophic cardiomyopathy and a fragile site on chromosome 16 in a large Italian family

Cosegregation of hypertrophic cardiomyopathy and a fragile site on chromosome 16 in a large Italian family

Journal of Medical Genetics 27(6): 363-366

We studied the karyotypes of 10 members of a family in whom hypertrophic cardiomyopathy is segregating as an autosomal dominant trait. In all those affected by the disease, a fragile site on the long arm of chromosome 16 was found, expressed with different frequencies, but the unaffected family members did not show this trait.

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Accession: 007165452

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PMID: 2359098

DOI: 10.1136/jmg.27.6.363

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