Identification and Molecular Characterization of a Novel Large-Scale Variant (Exons 4_18 Loss) in the LDLR Gene as a Cause of Familial Hypercholesterolaemia in an Italian Family

Paola Concolino; Elisa De Paolis; Simona Moffa; Maria Elisabetta Onori; Laura Soldovieri; Claudio Ricciardi Tenore; Maria De Bonis; Claudio Rabacchi; Concetta Santonocito; Martina Rinelli; Sebastiano Calandra; Andrea Giaccari; Andrea Urbani; Angelo Minucci

doi:10.3390/genes14061275

Identification and Molecular Characterization of a Novel Large-Scale Variant (Exons 4_18 Loss) in the LDLR Gene as a Cause of Familial Hypercholesterolaemia in an Italian Family

Paola Concolino
, Elisa De Paolis
, Simona Moffa
, Maria Elisabetta Onori
, Laura Soldovieri
, Claudio Ricciardi Tenore
, Maria De Bonis
, Claudio Rabacchi
, Concetta Santonocito
, Martina Rinelli
, Sebastiano Calandra
, Andrea Giaccari
, Andrea Urbani
, Angelo Minucci

University of Modena and Reggio Emilia

Risultato della ricerca: Contributo in rivista › Articolo

Lingua originale	Inglese
pagine (da-a)	N/A-N/A
Numero di pagine	9
Rivista	Genes
Volume	14
DOI	https://doi.org/10.3390/genes14061275
Stato di pubblicazione	Pubblicato - 2023

Keywords

Alu sequences
LDL cholesterol
LDLR gene
copy number variations (CNVs)
familial hypercholesterolemia
next-generation sequencing

Accesso al documento

10.3390/genes14061275

Altri file e collegamenti

Open Access link a IRIS PubliCatt

Cita questo

Concolino, P., De Paolis, E., Moffa, S., Onori, M. E., Soldovieri, L., Ricciardi Tenore, C., De Bonis, M., Rabacchi, C., Santonocito, C., Rinelli, M., Calandra, S., Giaccari, A., Urbani, A., & Minucci, A. (2023). Identification and Molecular Characterization of a Novel Large-Scale Variant (Exons 4_18 Loss) in the LDLR Gene as a Cause of Familial Hypercholesterolaemia in an Italian Family. Genes, 14, N/A-N/A. https://doi.org/10.3390/genes14061275

@article{8c48b916300c490281da1c06d06f85a4,

title = "Identification and Molecular Characterization of a Novel Large-Scale Variant (Exons 4\_18 Loss) in the LDLR Gene as a Cause of Familial Hypercholesterolaemia in an Italian Family",

keywords = "Alu sequences, LDL cholesterol, LDLR gene, copy number variations (CNVs), familial hypercholesterolemia, next-generation sequencing, Alu sequences, LDL cholesterol, LDLR gene, copy number variations (CNVs), familial hypercholesterolemia, next-generation sequencing",

author = "Paola Concolino and \{De Paolis\}, Elisa and Simona Moffa and Onori, \{Maria Elisabetta\} and Laura Soldovieri and \{Ricciardi Tenore\}, Claudio and \{De Bonis\}, Maria and Claudio Rabacchi and Concetta Santonocito and Martina Rinelli and Sebastiano Calandra and Andrea Giaccari and Andrea Urbani and Angelo Minucci",

year = "2023",

doi = "10.3390/genes14061275",

language = "English",

volume = "14",

pages = "N/A--N/A",

journal = "Genes",

issn = "2073-4425",

publisher = "Multidisciplinary Digital Publishing Institute (MDPI)",

}

Concolino, P, De Paolis, E, Moffa, S, Onori, ME, Soldovieri, L, Ricciardi Tenore, C, De Bonis, M, Rabacchi, C, Santonocito, C, Rinelli, M, Calandra, S, Giaccari, A , Urbani, A & Minucci, A 2023, 'Identification and Molecular Characterization of a Novel Large-Scale Variant (Exons 4_18 Loss) in the LDLR Gene as a Cause of Familial Hypercholesterolaemia in an Italian Family', Genes, vol. 14, pagg. N/A-N/A. https://doi.org/10.3390/genes14061275

TY - JOUR

T1 - Identification and Molecular Characterization of a Novel Large-Scale Variant (Exons 4_18 Loss) in the LDLR Gene as a Cause of Familial Hypercholesterolaemia in an Italian Family

AU - Concolino, Paola

AU - De Paolis, Elisa

AU - Moffa, Simona

AU - Onori, Maria Elisabetta

AU - Soldovieri, Laura

AU - Ricciardi Tenore, Claudio

AU - De Bonis, Maria

AU - Rabacchi, Claudio

AU - Santonocito, Concetta

AU - Rinelli, Martina

AU - Calandra, Sebastiano

AU - Giaccari, Andrea

AU - Urbani, Andrea

AU - Minucci, Angelo

PY - 2023

Y1 - 2023

KW - Alu sequences

KW - LDL cholesterol

KW - LDLR gene

KW - copy number variations (CNVs)

KW - familial hypercholesterolemia

KW - next-generation sequencing

KW - Alu sequences

KW - LDL cholesterol

KW - LDLR gene

KW - copy number variations (CNVs)

KW - familial hypercholesterolemia

KW - next-generation sequencing

UR - http://hdl.handle.net/10807/275090

U2 - 10.3390/genes14061275

DO - 10.3390/genes14061275

M3 - Article

SN - 2073-4425

VL - 14

SP - N/A-N/A

JO - Genes

JF - Genes

ER -