Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis

European Journal of Human Genetics

Volumn 18, Issue 3, 2010, Pages 317-323

  Micale, Lucia ^a   Turturo, Maria Giuseppina ^a   Fusco, Carmela ^a,b   Augello, Bartolomeo ^a   Jurado, Luis A Pérez ^c,d   Izzi, Claudia ^e   Digilio, Maria Cristina ^f   Milani, Donatella ^g   Lapi, Elisabetta ^h   Zelante, Leopoldo ^a   Merla, Giuseppe ^a  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b UNIVERSITY OF FOGGIA   (Italy)

^c UNIVERSITAT POMPEU FABRA   (Spain)

^d HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^e Prenatal Diagnosis Unit   (Italy)

^f BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^g UNIVERSITY OF MILAN   (Italy)

^h UNIVERSITY OF FLORENCE   (Italy)

Author keywords

7q11.23; ELN; Haploinsufficiency; NMD; SVAS

Indexed keywords

CYCLOHEXIMIDE; ELASTIN; MESSENGER RNA;

AORTA SUPRAVALVULAR STENOSIS; ARTICLE; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; FIBROBLAST; FRAMESHIFT MUTATION; GENE MUTATION; HUMAN; HUMAN CELL; IN VITRO STUDY; INTRON; MUTANT; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN ASSEMBLY; STOP CODON;

AORTIC STENOSIS, SUPRAVALVULAR; BASE SEQUENCE; CELL LINE; COHORT STUDIES; CYCLOHEXIMIDE; DNA MUTATIONAL ANALYSIS; ELASTIN; GENE EXPRESSION REGULATION; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; RNA SPLICE SITES; RNA, MESSENGER;

EID: 77149168766     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2009.181     Document Type: Article

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