Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: A clinical and molecular genetic analysis

Lancet

Volumn 359, Issue 9309, 2002, Pages 841-847

  Arca, Marcello ^b   Zuliani, Giovanni ^c   Wilund, Kenneth ^a   Campagna, Filomena ^b   Fellin, Renato ^c   Bertolini, Stefano ^d   Calandra, Sebastiano ^e   Ricci, Giorgio ^b   Glorioso, Nicola ^h   Maioli, Mario ^h   Pintus, Paolo ^g   Carru, Ciriaco ^h   Cossu, Fausto ^f   Cohen, Jonathan ^a   Hobbs, Helen H ^a  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

^c UNIVERSITY OF FERRARA   (Italy)

^d UNIVERSITY OF GENOA   (Italy)

^e UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^f Osp Regionale per le Microcitemie   (Italy)

^g BROTZU HOSPITAL   (Italy)

^h UNIVERSITY OF SASSARI   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADAPTOR PROTEIN; GENOMIC DNA; LIPOPROTEIN;

ADOLESCENT; ADULT; ALLELE; ANAMNESIS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CONSENSUS SEQUENCE; CONTROLLED STUDY; DNA ISOLATION; DNA RECOMBINATION; DNA SEQUENCE; EXON; FAMILIAL HYPERCHOLESTEROLEMIA; FAMILY STUDY; FEMALE; FRAMESHIFT MUTATION; GENETIC CODE; GEOGRAPHIC DISTRIBUTION; HUMAN; ITALY; LIPOPROTEIN BLOOD LEVEL; MALE; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SCHOOL CHILD;

EID: 0037045847     PISSN: 01406736     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0140-6736(02)07955-2     Document Type: Article

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