20 novel point mutations and one large deletion in EXT1 and EXT2 genes: Report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis

Gene

Volumn 515, Issue 2, 2013, Pages 339-348

  Ciavarella, Michele ^a   Coco, Michelina ^a   Baorda, Filomena ^a   Stanziale, Pietro ^a   Chetta, Massimiliano ^b   Bisceglia, Luigi ^a   Palumbo, Pietro ^a,c   Bengala, Mario ^d   Raiteri, Paola ^e   Silengo, Margherita ^f   Caldarini, Camilla ^h   Facchini, Renato ^h   Lala, Roberto ^g   Cavaliere, Maria Luigia ^h   De Brasi, Davide ^h   Pasini, Barbara ⁱ   Zelante, Leopoldo ^a   Guarnieri, Vito ^a   D'Agruma, Leonardo ^a  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b FONDAZIONE BRUNO KESSLER   (Italy)

^c UNIVERSITY OF BARI   (Italy)

^d TOR VERGATA UNIVERSITY HOSPITAL   (Italy)

^e ACAR Associazione Conto alla Rovescia   (Italy)

^f UNIVERSITY OF TURIN   (Italy)

^g Clinica Ortopedica   (Italy)

^h UNIVERSITY OF TURIN   (Italy)

ⁱ CARDARELLI HOSPITAL   (Italy)

Author keywords

Exostosis; EXT1; EXT2; Mutation

Indexed keywords

EXT1 PROTEIN; EXT2 PROTEIN; MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SEQUENCE; ARTICLE; COHORT ANALYSIS; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; DIAGNOSTIC VALUE; FEMALE; GENE DELETION; GENETIC SCREENING; HEREDITARY MULTIPLE EXOSTOSIS; HUMAN; ITALY; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; POINT MUTATION; PRIORITY JOURNAL; PROTEIN FOLDING; PROTEIN STABILITY; RNA SPLICING;

ADOLESCENT; ADULT; AGED; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; COMPARATIVE GENOMIC HYBRIDIZATION; CONSERVED SEQUENCE; DNA MUTATIONAL ANALYSIS; EXOSTOSES, MULTIPLE HEREDITARY; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT; ITALY; MALE; MIDDLE AGED; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; N-ACETYLGLUCOSAMINYLTRANSFERASES; PEDIGREE; POINT MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN ISOFORMS; PROTEIN STRUCTURE, TERTIARY; SEQUENCE DELETION; YOUNG ADULT;

EID: 84872496077     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.11.055     Document Type: Article

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