Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-hegglin anomaly and Fechtner, Sebastian, Epstein, and alport-like syndromes

American Journal of Human Genetics

Volumn 69, Issue 5, 2001, Pages 1033-1045

  Heath, Karen E ^a   Campos Barros, Angel ^a,b   Toren, Amos ^c   Rozenfeld Granot, Galit ^c   Carlsson, Lena E ^d   Savige, Judy ^e,f   Denison, Joyce C ^g   Gregory, Martin C ^g   White, James G ^h   Barker, David F ^g   Greinacher, Andreas ^d   Epstein, Charles J ⁱ   Glucksman, Marc J ^a,j   Martignetti, John A ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b HOSPITAL INFANTIL UNIVERSITARIO NIÑO JESÚS   (Spain)

^c SHEBA MEDICAL CENTER   (Israel)

^d UNIVERSITY OF GREIFSWALD   (Germany)

^e Department of Medicine ^*  (United States)

^f UNIVERSITY OF MELBOURNE   (Australia)

^g UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^h UNIVERSITY OF MINNESOTA   (United States)

ⁱ UNIVERSITY OF CALIFORNIA   (United States)

^j ROSALIND FRANKLIN UNIVERSITY OF MEDICINE AND SCIENCE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ALPORT SYNDROME; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; DNA SEQUENCE; FECHTNER SYNDROME; GENE MUTATION; GENOTYPE; HAPLOTYPE; HUMAN; MAY HEGGLIN ANOMALY; MOLECULAR MODEL; NEPHROTIC SYNDROME; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEBASTIAN SYNDROME; SYNDROME DELINEATION; THROMBOCYTOPENIA; X RAY CRYSTALLOGRAPHY;

EID: 0034755959     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/324267     Document Type: Article

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