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2 research outputs found
Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosis
Author
A. Verrips
Bert G. Wolthers
+6 more
Fons J. M. Gabre�ls
Gerry C. H. Steenbergen-Spanjers
J. A. F. M. Luyten
John H. J. Wokke
Lambert P. W. J. van den Heuvel
R. A. Wevers
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC)
Author
B. Geurtz
Bräiutigam
+30 more
C. Bräutigam
Craig
Davidson
Dumas
F. J. M. Gabreëls
G. C. H. Steenbergen-Spanjers
G. F. Hoffmann
Goodwill
Grima
Heuvel
Hyland
Ichinose
J. A. M. Smeitink
J. F. de Rijk-van Andel
Kaneda
Knappskog
Kobayashi
Kruesi
L. P. W. J. van den Heuvel
Langlais
Lüdecke
Lüdecke
Lüdecke
Mashige
Nagatsu
O'Malley
R. A. Wevers
Sjösström
Xue
Zhou
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
No full text
