Novel gene mutations at the low density lipoprotein receptor locus: FH-Kanazawa and FH-Okayama.

doi:10.1111/j.1365-2796.1990.tb00153.x

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Article

Novel gene mutations at the low density lipoprotein receptor locus: FH-Kanazawa and FH-Okayama.

Journal of internal medicine - 1 Apr 1990

Kajinami K, Mabuchi H, Inazu A, Fujita H, Koizumi J, Takeda R, Matsue T, Kibata M

Abstract excerpt

Gene mutations at the low density lipoprotein (LDL) receptor locus were screened in 210 alleles of Japanese patients with familial hypercholesterolaemia (FH). In the present study, two types of novel mutation were identified by genomic Southern blotting using human LDL receptor cDNA probes. An ap...

Topics

Alleles
Blotting, Southern
Chromosome Deletion
DNA
Female
Humans
Hyperlipoproteinemia Type II
Japan
Molecular Probes
Mutation
Receptors, LDL

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