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VITALI , Cecilia

Last name: VITALI

First name: Cecilia

2015 (v1)

Publication

Metadata-only

A complex phenotype in a child with familial HDL deficiency due to a novel frameshift mutation in APOA1 gene (apoA-IGuastalla)

PISCIOTTA, LIVIA Vitali, Cecilia Favari, Elda

BACKGROUND: We describe a kindred with high-density lipoprotein (HDL) deficiency due to APOA1 gene mutation in which comorbidities affected the phenotypic expression of the disorder. METHODS: An overweight boy with hypertriglyceridemia (HTG) and HDL deficiency (HDL cholesterol 0.39 mmol/L, apoA-I 40 mg/dL) was investigated. We sequenced...

Uploaded on: April 14, 2023