Identification of two new mutations in the TAT gene in a Danish family with tyrosinaemia type II.

BRITISH JOURNAL OF DERMATOLOGY(2009)

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摘要
Journal Article Identification of two new mutations in the TAT gene in a Danish family with tyrosinaemia type II Get access S.M. Pasternack, S.M. Pasternack Institute of Human Genetics, University of Bonn, Bonn, Germany Search for other works by this author on: Oxford Academic Google Scholar R.C. Betz, R.C. Betz Institute of Human Genetics, University of Bonn, Bonn, Germany Search for other works by this author on: Oxford Academic Google Scholar F. Brandrup, F. Brandrup Departments of Dermatology Search for other works by this author on: Oxford Academic Google Scholar E.F. Gade, E.F. Gade Ophthalmology Search for other works by this author on: Oxford Academic Google Scholar O. Clemmensen, O. Clemmensen Clinical Pathology, Odense University Hospital, 5000 Odense C, Denmark Search for other works by this author on: Oxford Academic Google Scholar A.M. Lund, A.M. Lund Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark Search for other works by this author on: Oxford Academic Google Scholar E. Christensen, E. Christensen Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark Search for other works by this author on: Oxford Academic Google Scholar A. Bygum A. Bygum Departments of Dermatology Correspondence: Anette Bygum. E‐mail: anette.bygum@ouh.regionsyddanmark.dk Search for other works by this author on: Oxford Academic Google Scholar British Journal of Dermatology, Volume 160, Issue 3, 1 March 2009, Pages 704–706, https://doi.org/10.1111/j.1365-2133.2008.08888.x Published: 01 March 2009
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关键词
mutation analysis,oculocutaneous tyrosinaemia type II,Richner-Hanhart syndrome,TAT gene
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