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Mutations in ABCA12 Underlie the Severe Congenital Skin Disease Harlequin Ichthyosis

Mutations in ABCA12 Underlie the Severe Congenital Skin Disease Harlequin Ichthyosis

P. David Kelsell; E. Elizabeth Norgett; Harriet Unsworth; Muy-Teck Teh; Thomas Cullup; Charles A. Mein; J. Patricia Dopping-Hepenstal; A. Beverly Dale; Gianluca Tadini; Philip Fleckman; G. Karen Stephens; P. Virginia Sybert; B. Susan Mallory; V. Bernard North; R. David Witt; Eli Sprecher; Aileen E. M. Taylor; Andrew Ilchyshyn; T. Cameron Kennedy; Helen Goodyear; Celia Moss; David Paige; I. John Harper; D. Bryan Young; M. Irene Leigh; A.J. Robin Eady; A. Edel O’Toole
  • 作者P. David Kelsell; E. Elizabeth Norgett; Harriet Unsworth; Muy-Teck Teh; Thomas Cullup; Charles A. Mein; J. Patricia Dopping-Hepenstal; A. Beverly Dale; Gianluca Tadini; Philip Fleckman; G. Karen Stephens; P. Virginia Sybert; B. Susan Mallory; V. Bernard North; R. David Witt; Eli Sprecher; Aileen E. M. Taylor; Andrew Ilchyshyn; T. Cameron Kennedy; Helen Goodyear; Celia Moss; David Paige; I. John Harper; D. Bryan Young; M. Irene Leigh; A.J. Robin Eady; A. Edel O’Toole
  • 卷第76卷
  • 期第5期
  • 印刷ISSN0002-9297
  • 电子ISSN1537-6605
  • 文件大小3136.43KB
  • 发表时间2005
  • DOI10.1086/429844
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