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Genetic epidemiology of autosomal recessive hypercholesterolemia in Sicily: Identification by next-generation sequencing of a new kindred
by
Spina, Rossella
,
Noto, Davide
,
Barbagallo, Carlo M.
,
Monastero, Roberto
,
Ingrassia, Valeria
,
Valenti, Vincenza
,
Baschi, Roberta
,
Pipitone, Antonina
,
Giammanco, Antonina
,
La Spada, Maria P.
,
Misiano, Gabriella
,
Scrimali, Chiara
,
Cefalù, Angelo B.
,
Averna, Maurizio R.
Published in
Journal of clinical lipidology
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Journal Of Clinical Lipidology
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Subjects
Adaptor Proteins, Signal Transducing - Genetics
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Adolescent
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Adult
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Aged
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Aged, 80 And Over
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Allele Frequency
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Alleles
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Arh1
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Autosomal Recessive Hypercholesterolemia
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Child
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Female
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Genotype
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Heterozygous Carriers
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High-Throughput Nucleotide Sequencing
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Homozygote
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Humans
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Hypercholesterolemia - Diagnosis
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Hypercholesterolemia - Epidemiology
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Hypercholesterolemia - Genetics
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Hyperlipoproteinemia Type Iii
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Sciencedirect
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Elsevier
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