Two novel partial deletions of LDL-receptor gene in Italian patients with familial hypercholesterolemia (FH Siracusa and FH Reggio Emilia).

Garuti, R; Lelli, N; Barozzini, M; Tiozzo, R; Ghisellini, M; Simone, M L; Li Volti, S; Garozzo, R; Mollica, F; Vergoni, W; Bertolini, S; Calandra, S

Garuti, R; Lelli, N; Barozzini, M; Tiozzo, R; Ghisellini, M; Simone, M L; Li Volti, S; Garozzo, R; Mollica, F; Vergoni, W; Bertolini, S; Calandra, S.

Affiliation

Garuti R; Dipartimento di Scienze Biomediche, Università di Modena, Italy.

Atherosclerosis ; 121(1): 105-17, 1996 Mar.

Article in En | MEDLINE | ID: mdl-8678915

Subject(s)

Frameshift Mutation; Hyperlipoproteinemia Type II/genetics; Receptors, LDL/genetics; Sequence Deletion; Adult; Alleles; Base Sequence; Cells, Cultured; Child; Child, Preschool; Cloning, Molecular; DNA Mutational Analysis; DNA Replication; Deoxyribonuclease BamHI; Female; Fibroblasts/pathology; Heterozygote; Humans; Hyperlipoproteinemia Type II/ethnology; Hyperlipoproteinemia Type II/pathology; Italy/epidemiology; Male; Middle Aged; Molecular Sequence Data; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Receptors, LDL/deficiency; Repetitive Sequences, Nucleic Acid; Trinucleotide Repeats

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Collection: 01-internacional Database: MEDLINE Main subject: Receptors, LDL / Frameshift Mutation / Sequence Deletion / Hyperlipoproteinemia Type II Limits: Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Country/Region as subject: Europa Language: En Journal: Atherosclerosis Year: 1996 Type: Article Affiliation country: Italy

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