MYH9-related disease: Five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations

European Journal of Medical Genetics

Volumn 56, Issue 1, 2013, Pages 7-12

  De Rocco, Daniela ^a   Zieger, Barbara ^b   Platokouki, Helen ^c   Heller, Paula G ^d   Pastore, Annalisa ^e   Bottega, Roberta ^a   Noris, Patrizia ^f   Barozzi, Serena ^f   Glembotsky, Ana C ^d   Pergantou, Helen ^c   Balduini, Carlo L ^f   Savoia, Anna ^a,g   Pecci, Alessandro ^f  

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

^b UNIVERSITY OF FREIBURG   (Germany)

^c AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

^d INSTITUTO DE INVESTIGACIONES MÉDICAS ALFREDO LANARI   (Argentina)

^e NATIONAL INSTITUTE FOR MEDICAL RESEARCH   (United Kingdom)

^f UNIVERSITY OF PAVIA   (Italy)

^g UNIVERSITY OF TRIESTE   (Italy)

Author keywords

Genotype phenotype correlation; In frame deletion duplication; Missense mutation; Mutational screening; MYH9 gene; MYH9 related disease

Indexed keywords

ARGININE; ASPARTIC ACID; GLUTAMIC ACID; GLYCINE; LYSINE; METHIONINE; MYOSIN; MYOSIN HEAVY CHAIN; MYOSIN HEAVY CHAIN 9; SERINE; TYROSINE; UNCLASSIFIED DRUG; VALINE;

ADULT; ARTICLE; AUTOIMMUNE THROMBOCYTOPENIA; AUTOSOMAL DOMINANT DISORDER; BLEEDING; CHILD; CLINICAL ARTICLE; DISEASE SEVERITY; EPISTAXIS; FATALITY; FEMALE; FRAMESHIFT MUTATION; GENE DUPLICATION; GENOTYPE; HUMAN; MALE; MENORRHAGIA; MISSENSE MUTATION; MOTHER; MYH9 RELATED DISEASE; PERCEPTION DEAFNESS; PHENOTYPE; PRESCHOOL CHILD; PROTEIN DOMAIN; PROTEIN STRUCTURE; PROTEINURIA; SCHOOL CHILD; SKIN BRUISING;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; EXONS; FEMALE; GENES, DOMINANT; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; MIDDLE AGED; MODELS, MOLECULAR; MOLECULAR MOTOR PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; MYOSIN HEAVY CHAINS; PEDIGREE; PROTEIN CONFORMATION; SEQUENCE ALIGNMENT; SYNDROME; THROMBOCYTOPENIA; YOUNG ADULT;

EID: 84871699930     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.10.009     Document Type: Article

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