Mutations in the 5′ UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2

American Journal of Human Genetics

Volumn 88, Issue 1, 2011, Pages 115-120

  Pippucci, Tommaso ^a   Savoia, Anna ^b,c   Perrotta, Silverio ^d   Pujol Moix, Núria ^e   Noris, Patrizia ^f   Castegnaro, Giovanni ^a   Pecci, Alessandro ^f   Gnan, Chiara ^b   Punzo, Francesca ^d,g   Marconi, Caterina ^a   Gherardi, Samuele ^a   Loffredo, Giuseppe ^h   De Rocco, Daniela ^c   Scianguetta, Saverio ^d   Barozzi, Serena ^f   Magini, Pamela ^a   Bozzi, Valeria ^f   Dezzani, Luca ^f   Di Stazio, Mariateresa ^b   Ferraro, Marcella ^d   Perini, Giovanni ^a   Seri, Marco ^a   Balduini, Carlo L ^f   more..

^a UNIVERSITY OF BOLOGNA   (Italy)

^b UNIVERSITY OF TRIESTE   (Italy)

^c INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

^d SECOND UNIVERSITY OF NAPLES   (Italy)

^e UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^f UNIVERSITY OF PAVIA   (Italy)

^g ERASMUS MEDICAL CENTER   (Netherlands)

^h Ospedale Pausilipon   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

LUCIFERASE; PROTEIN P19; ANKYRIN;

ANKIRIN REPEAT DOMAIN 26 GENE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 19P; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN CELL; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; THROMBOCYTOPENIA; CHROMOSOME BREAKAGE; CHROMOSOME DISORDER; DOMINANT GENE; GENE LOCUS; GENETICS; HAPLOINSUFFICIENCY; MOLECULAR GENETICS; MUTATION; PEDIGREE;

ANIMALIA; PRIMATES;

ANKYRIN REPEAT; BASE SEQUENCE; CHROMOSOME BREAKAGE; CHROMOSOME DISORDERS; CONSERVED SEQUENCE; FEMALE; GENES, DOMINANT; GENETIC LOCI; HAPLOINSUFFICIENCY; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; THROMBOCYTOPENIA;

EID: 78650879044     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.12.006     Document Type: Article

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