A G to C transversion at the last nucleotide of exon 25 of the MYH9 gene results in a missense mutation rather than in a splicing defect

European Journal of Medical Genetics

Volumn 53, Issue 5, 2010, Pages 256-260

  Vettore, Silvia ^a,e   De Rocco, Daniela ^b,e   Gerber, Bernhard ^c   Scandellari, Raffaella ^a,e   Bianco, Anna Monica ^b   Balduini, Carlo L ^d,e   Pecci, Alessandro ^d,e   Fabris, Fabrizio ^a,e   Savoia, Anna ^b,e  

^a UNIVERSITY OF PADOVA   (Italy)

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

^c UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^d FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^e Italian Registry for MYH9 Related Disease   (Italy)

Author keywords

Macrothrombocytopenia; Missense and splicing mutation; MYH9 gene; MYH9 related disease; Neutrophil inclusion

Indexed keywords

ADULT; ARTICLE; BIOINFORMATICS; BLOOD EXAMINATION; BLOOD SAMPLING; CASE REPORT; EXON; FEMALE; FUNCTION TEST; GENE; GENETIC ANALYSIS; GENETIC RISK; HEARING LOSS; HUMAN; MEGALOCYTOSIS; MICROSCOPY; MISSENSE MUTATION; MYH9 GENE; NUCLEIC ACID BASE SUBSTITUTION; RNA PURIFICATION; SPLICING DEFECT; THROMBOCYTOPENIA;

ADOLESCENT; ADULT; BLOOD PLATELETS; COMPUTATIONAL BIOLOGY; EXONS; FEMALE; HUMANS; INCLUSION BODIES; KIDNEY FAILURE, CHRONIC; MOLECULAR MOTOR PROTEINS; MUTATION, MISSENSE; MYOSIN HEAVY CHAINS; NEUTROPHILS; NONMUSCLE MYOSIN TYPE IIA; NUCLEOTIDES; RNA SPLICING; THROMBOCYTOPENIA;

EID: 77956920066     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2010.06.010     Document Type: Article

References (21)

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