title: A Japanese pedigree with a p.A95V mutation in the MYH9 gene demonstrates inherited macrothrombocytopenia without Alport manifestations.
authors: Department of Pediatrics, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, Aichi, 4660065, Japan.
authors: Setsuri
authors: S
authors: Yokoi
authors: Department of Advanced Diagnosis, Clinical Research Center, National Hospital Organization Nagoya Medical Center, 4-1-1 Sannomaru, Naka-ku, Nagoya, Aichi, 4600001, Japan. kunishis@nnh.hosp.go.jp.
authors: Shinji
authors: S
authors: Kunishima
authors: Department of Pediatrics, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, Aichi, 4660065, Japan.
authors: Yoshiyuki
authors: Y
authors: Takahashi
authors: Department of Pediatrics, Tosei General Hospital, 160 Nishioiwake-cho, Seto, Aichi, 4898642, Japan.
authors: Masashi
authors: M
authors: Morishita
authors: Department of Pediatrics, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, Aichi, 4660065, Japan. kojimas@med.nagoya-u.ac.jp.
authors: Seiji
authors: S
authors: Kojima
mesh_terms: D002648:Child; D005091:Exons / Q000235:genetics; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D020409:Molecular Motor Proteins / Q000737:chemistry / Q000235:genetics*; D018995:Myosin Heavy Chains / Q000737:chemistry / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D017434:Protein Structure, Tertiary; D013921:Thrombocytopenia / Q000151:congenital* / Q000235:genetics
chemical_list: C103814:MYH9 protein, human; D020409:Molecular Motor Proteins; D018995:Myosin Heavy Chains