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A homozygous missense variant in UBE2T is associated with a mild Fanconi anemia phenotype.
Schultz-Rogers, Laura; Lach, Francis P; Rickman, Kimberly A; Ferrer, Alejandro; Mangaonkar, Abhishek A; Schwab, Tanya L; Schmitz, Christopher T; Clark, Karl J; Dsouza, Nikita R; Zimmermann, Michael T; Litzow, Mark; Jacobi, Nicole; Klee, Eric W; Smogorzewska, Agata; Patnaik, Mrinal M.
Afiliação
  • Schultz-Rogers L; Mayo Clinic.
  • Lach FP; The Rockefeller University.
  • Rickman KA; The Rockefeller University.
  • Ferrer A; Mayo Clinic.
  • Mangaonkar AA; Mayo Clinic.
  • Schwab TL; Mayo Clinic.
  • Schmitz CT; Mayo Clinic.
  • Clark KJ; Mayo Clinic.
  • Dsouza NR; Medical College of Wisconsin.
  • Zimmermann MT; Medical College of Wisconsin.
  • Litzow M; Mayo Clinic.
  • Jacobi N; Hennepin County Medical Center.
  • Klee EW; Mayo Clinic.
  • Smogorzewska A; The Rockefeller University.
  • Patnaik MM; Mayo Clinic.
Haematologica ; 106(4): 1188-1192, 2021 04 01.
Article em En | MEDLINE | ID: mdl-32646888
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anemia de Fanconi Tipo de estudo: Diagnostic_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anemia de Fanconi Tipo de estudo: Diagnostic_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article