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515 : Mutations in KLHL24 add to the molecular heterogeneity of epidermolysis bullosa simplex

Researchers

Presenter

  • J.Y.W. Lee

Principal Investigators

  • L. Liu

  • C. Hsu

  • S. Aristodemou

  • L. Ozoemena

  • M. Ogboli

  • C. Moss

  • A.E. Martinez

  • J.E. Mellerio

  • J. McGrath

Medical Centers

  • Birmingham Children's Hospital, Birmingham, United Kingdom

  • Great Ormond Street Hospital, London, United Kingdom

  • RDEB SCC Sequencing Consortium, London, England, United Kingdom

  • NATIONAL CHENG KUNG UNIVERSITY HOSPITAL, Tainan, Taiwan

  • Viapath, London, United Kingdom

  • Kings College London, UNITED KINGDOM

Locations

  • United Kingdom

  • China

Companies

  • N/A

Study Components

Therapeutic Area

  • Genetic Disorder

  • Central Nervous System (CNS)

  • Dermatology

Disease

  • Epidermolysis bullosa

  • Trauma

Biomarkers

  • N/A

Drug/Treatment

  • methionine

Outcome

  • N/A

Study Design

  • Cohort

Phase

  • NA

Study Id's

  • N/A

Sponsors

  • N/A

Result

  • Final

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