Epstein syndrome: Another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene

Human Genetics

Volumn 110, Issue 2, 2002, Pages 182-186

  Seri, Marco ^b   Savino, Maria ^c   Bordo, Domenico ^d   Cusano, Roberto ^b   Rocca, Bianca ^e   Meloni, Ilaria ^f   Di Bari, Filomena ^a   Koivisto, Pasi A ^g   Bolognesi, Martino ^d   Ghiggeri, Gian Marco ^b   Landolfi, Raffaele ^e   Balduini, Carlo L ^h   Zelante, Leopoldo ^c   Ravazzolo, Roberto ^b,d   Renieri, Alessandra ^f   Savoia, Anna ^a  

^a TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^b G GASLINI INSTITUTE   (Italy)

^c CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^d UNIVERSITY OF GENOA   (Italy)

^e CATHOLIC UNIVERSITY   (Italy)

^f UNIVERSITY OF SIENA   (Italy)

^g TAMPERE UNIVERSITY HOSPITAL   (Finland)

^h UNIVERSITY OF PAVIA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; DISULFIDE; HEAVY CHAIN MYOSIN IIA; MYOSIN HEAVY CHAIN; UNCLASSIFIED DRUG;

ADULT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CODON; FEMALE; GENE MUTATION; GENETIC HETEROGENEITY; HEARING LOSS; HUMAN; KIDNEY DISEASE; MALE; MAY HEGGLIN ANOMALY; MISSENSE MUTATION; MOLECULAR MODEL; NEPHRITIS; NEPHROTIC SYNDROME; PATHOGENESIS; PREDICTION; PRIORITY JOURNAL; PROTEIN AGGREGATION; SMOOTH MUSCLE; THROMBOCYTOPENIA; X RAY CRYSTALLOGRAPHY;

EID: 0036488013     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-001-0659-1     Document Type: Article

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