A novel missense mutation affecting the same amino acid as the recurrent PACS1 PACS1 PACS1 mutation in Schuurs‐Hoeijmakers syndrome

著录项

• 来源
  《Clinical Genetics: An International Journal of Genetics in Medicine》 |2018年第4期|共5页
• 作者

  Miyake N.; Ozasa S.; Mabe H.; Kimura S.; Shiina M.; Imagawa E.; Miyatake S.; Nakashima M.; Mizuguchi T.; Takata A.; Ogata K.; Matsumoto N.;

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• 作者单位

  Department of Human GeneticsYokohama City University Graduate School of MedicineYokohama Japan;

  Department of PediatricsKumamoto UniversityKumamoto Japan;

  Department of PediatricsKumamoto UniversityKumamoto Japan;

  Kumamoto City Child Development Support CenterKumamoto Japan;

  Department of BiochemistryYokohama City University Graduate School of MedicineYokohama Japan;

  Department of Human GeneticsYokohama City University Graduate School of MedicineYokohama Japan;

  Department of Human GeneticsYokohama City University Graduate School of MedicineYokohama Japan;

  Department of Human GeneticsYokohama City University Graduate School of MedicineYokohama Japan;

  Department of Human GeneticsYokohama City University Graduate School of MedicineYokohama Japan;

  Department of Human GeneticsYokohama City University Graduate School of MedicineYokohama Japan;

  Department of BiochemistryYokohama City University Graduate School of MedicineYokohama Japan;

  Department of Human GeneticsYokohama City University Graduate School of MedicineYokohama Japan;

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