High-resolution melting analysis for detection of MYH9 mutations

Platelets

Volumn 19, Issue 6, 2008, Pages 471-475

  Provaznikova, Dana ^a   Kumstyrova, Tereza ^b   Kotlin, Roman ^a   Salaj, Peter ^a   Matoska, Vaclav ^b   Hrachovinova, Ingrid ^a   Rittich, Simon ^a  

^a INSTITUTE OF HEMATOLOGY AND BLOOD TRANSFUSION   (Czech Republic)

^b NA HOMOLCE HOSPITAL   (Czech Republic)

Author keywords

Giant platelets; HRMA; MYH9; NMMHC IIA; Thrombocytopenia

Indexed keywords

DOUBLE STRANDED DNA; DYE; MYOSIN IIA;

ANALYTIC METHOD; ARTICLE; CLINICAL ARTICLE; DIAGNOSTIC VALUE; FLUORESCENCE; GENE; GENE MUTATION; GENE SEQUENCE; HIGH RESOLUTION MELTING ANALYSIS; HUMAN; MELTING POINT; MUTATIONAL ANALYSIS; MYH9 GENE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

BLOOD PLATELETS; CELL SIZE; DNA MUTATIONAL ANALYSIS; HUMANS; MOLECULAR MOTOR PROTEINS; MUTATION, MISSENSE; MYOSIN HEAVY CHAINS; THROMBOCYTOPENIA; TRANSITION TEMPERATURE;

EID: 54349088086     PISSN: 09537104     EISSN: 13691635     Source Type: Journal    
DOI: 10.1080/09537100802140013     Document Type: Article

References (7)

1. Simons M, Wang M, McBride OW, Kawamoto S, Yamakawa K, Gdula D, Adelstein RS, Weir L. Human nonmuscle myosin heavy chains are encoded by two genes located on different chromosomes. Circ Res 1991;69:530-539.
2. Heath KE, Campos-Barros A, Toren A, Rozenfeld-Granot G, Carlsson LE, Savige J, Denison JC, Gregory MC, White JG, Barker DF, et al. Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin Anomaly and Fechtner, Sebastian, Epstein, and Alport-Like Syndromes. Am J Hum Genet 2001;69:1033-1045.
3. Hegglin R. Gleichzeitige konstitutionelle veranderungen an Neutrophilen und thrombocyten. Helv Med Acta 1945;12:439-440.
4. May R. Leukozyteneinschlusse. Deut Arch Klin Med 1909;96:1-6.
5. Mhawech P, Saleem A. Inherited giant platelet disorders. Classification and literature review. Am J Clin Pathol 2000;113:176-190.
6. Seri M, Cusano R, Gangarossa S, Caridi G, Bordo D, Lo Nigro C, Ghiggeri GM, Ravazzolo R, Savino M, Del Vecchio M, et al. Mutations in MYH9 result in the May-Hegglin anomaly and Fechtner and Sebastian syndromes, May-Hegglin/Fechtner Syndrome Consortium. Nat Genet 2000;26:103-105.
7. Kelley MJ, Jawien W, Ortel TL, Korczak JF. Mutation of MYH9, encoding non-muscle myosin heavy chain, in May-Hegglin anomaly. Nat Genet 2000;26:108-110.