Molecular genetic analysis of a female patient with pyruvate dehydrogenase deficiency: detection of a new mutation and differential expression of mutant gene product in cultured cells.

• ITO M

収録刊行物

• J Inherit Metab Dis

  J Inherit Metab Dis 8 547-557, 1995

詳細情報

• CRID: 1573950401084411392
• NII論文ID: 30012219598
• DOI: 10.1007/bf02435999
• データソース種別:
  • CiNii Articles