Diagnosis of Chediak Higashi disease in a 67-year old woman

著录项

• 来源
  《American journal of medical genetics, Part A》 |2020年第12期|共7页
• 作者

  Yarnell David S.; Roney Joseph C.; Teixeira Claudia; Freitas Maria I.; Cipriano Ana; Leuschner Pedro; Krzewski Konrad; Stephen Joshi; Dorward Heidi; Gahl William A.; Gochuico Bernadette R.; Toro Camilo; Malicdan May C.; Introne Wendy J.;

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• 作者单位

  NIH Undiagnosed Dis Program Common Fund Off Director Bldg 10 Bethesda MD 20892 USA;

  NHGRI Sect Human Biochem Genet Med Genet Branch NIH Bethesda MD 20892 USA;

  Ctr Hosp Univ S Joao Dept Clin Pathol Porto Portugal;

  Ctr Hosp Univ Porto Dept Pathol Lab Hematol Unit Porto Portugal;

  Ctr Hosp Univ Porto Dept Med Infect Dis Unit Porto Portugal;

  Ctr Hosp Univ Porto Dept Med Internal Med Unit Porto Portugal;

  NIAID Receptor Cell Biol Sect NIH 9000 Rockville Pike Bethesda MD 20892 USA;

  NHGRI Sect Human Biochem Genet Med Genet Branch NIH Bethesda MD 20892 USA;

  NHGRI Sect Human Biochem Genet Med Genet Branch NIH Bethesda MD 20892 USA;

  NIH Undiagnosed Dis Program Common Fund Off Director Bldg 10 Bethesda MD 20892 USA;

  NHGRI Sect Human Biochem Genet Med Genet Branch NIH Bethesda MD 20892 USA;

  NIH Undiagnosed Dis Program Common Fund Off Director Bldg 10 Bethesda MD 20892 USA;

  NIH Undiagnosed Dis Program Common Fund Off Director Bldg 10 Bethesda MD 20892 USA;

  NHGRI Sect Human Biochem Genet Med Genet Branch NIH Bethesda MD 20892 USA;

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• 收录信息
• 原文格式 PDF
• 正文语种 eng
• 中图分类 医学遗传学;
• 关键词

  lysosomal disorders; next generation sequencing; rare disorders;

  机译：溶酶体紊乱;下一代测序;罕见障碍;