Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes

Nature Genetics

Volumn 26, Issue 1, 2000, Pages 103-105

  Seri, Marco ^a   Cusano, Roberto ^a   Gangarossa, Simone ^b   Caridi, Gianluca ^a   Bordo, Domenico ^c   Nigro, Cristiana Lo ^a   Ghiggeri, Gian Marco ^a   Ravazzolo, Roberto ^a,d   Suvino, Maria ^e   Del Vecchio, Maria ^e   D'Apolito, Maria ^e   Iolascon, Achille ^f   Zelante, Leopoldo L ^e   Savoia, Anna ^e   Balduini, Carlo L ^g   Noris, Patrizia ^g   Magrini, Umberto ^g   Belletti, Simona ^g   Heath, Karen E ^h   Babcock, Melanie ^h   Glucksman, Marc J ^h   Aliprandis, Elias ^h   Bizzaro, Nicola ⁱ   Desnick, Robert J ^h   Martignetti, John A ^h   more..

^a G GASLINI INSTITUTE   (Italy)

^b IST c/o Adv Biotechnology Center ^*  (Italy)

^c UNIVERSITY OF GENOA   (Italy)

^d UNIVERSITY OF GENOA   (Italy)

^e IRCCS San Giovanni Rotondo   (Italy)

^f UNIVERSITY OF BARI   (Italy)

^g FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^h MOUNT SINAI SCHOOL OF MEDICINE   (United States)

ⁱ Ospedale Civile   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CATARACT; CHROMOSOME 22; CONFORMATIONAL TRANSITION; GENE EXPRESSION; GENE MUTATION; HUMAN; NEPHRITIS; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PERCEPTION DEAFNESS; PRIORITY JOURNAL; THROMBOCYTE DISORDER; THROMBOCYTOPENIA;

ALLELES; AMINO ACID SEQUENCE; ANIMALS; BLOOD PLATELET DISORDERS; CATARACT; CHICKENS; CHROMOSOMES, HUMAN, PAIR 22; CRYSTALLOGRAPHY, X-RAY; CYTOPLASM; GENOTYPE; HEARING LOSS, SENSORINEURAL; HUMANS; LEUKOCYTES; MODELS, MOLECULAR; MOLECULAR MOTOR PROTEINS; MOLECULAR SEQUENCE DATA; MUSCLE, SMOOTH; MUTATION; MUTATION, MISSENSE; MYOSIN HEAVY CHAINS; MYOSINS; NEPHRITIS; NEUTROPHILS; PHENOTYPE; PROTEIN CONFORMATION; PROTEIN STRUCTURE, TERTIARY; SEQUENCE HOMOLOGY, AMINO ACID; SYNDROME; THROMBOCYTOPENIA;

EID: 0033812573     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/79063     Document Type: Article

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