Abstract

Exome sequencing is a promising tool for gene mapping in Mendelian disorders. We used this technique in an attempt to identify novel genes underlying monogenic dyslipidemias.
Lingua originaleEnglish
pagine (da-a)343-350
Numero di pagine8
RivistaCIRCULATION. CARDIOVASCULAR GENETICS
Volume8
Stato di pubblicazionePublished - 2015

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Exome
Chromosome Mapping
Dyslipidemias
Genes

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)
  • Cardiology and Cardiovascular Medicine

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title = "Exome sequencing in suspected monogenic dyslipidemias",
abstract = "Exome sequencing is a promising tool for gene mapping in Mendelian disorders. We used this technique in an attempt to identify novel genes underlying monogenic dyslipidemias.",
keywords = "DNA sequencing; exome; genetics; human; lipids",
author = "Maurizio Averna and Cefalu', {Angelo Baldassare} and Davide Noto",
year = "2015",
language = "English",
volume = "8",
pages = "343--350",
journal = "Circulation: Cardiovascular Genetics",
issn = "1942-325X",
publisher = "Lippincott Williams and Wilkins Ltd.",

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T1 - Exome sequencing in suspected monogenic dyslipidemias

AU - Averna, Maurizio

AU - Cefalu', Angelo Baldassare

AU - Noto, Davide

PY - 2015

Y1 - 2015

N2 - Exome sequencing is a promising tool for gene mapping in Mendelian disorders. We used this technique in an attempt to identify novel genes underlying monogenic dyslipidemias.

AB - Exome sequencing is a promising tool for gene mapping in Mendelian disorders. We used this technique in an attempt to identify novel genes underlying monogenic dyslipidemias.

KW - DNA sequencing; exome; genetics; human; lipids

UR - http://hdl.handle.net/10447/127406

M3 - Article

VL - 8

SP - 343

EP - 350

JO - Circulation: Cardiovascular Genetics

JF - Circulation: Cardiovascular Genetics

SN - 1942-325X

ER -