Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Elke Pick"'
Autor:
Petra Kioschis, Sabina Liechti-Gallati, Sabine M. Klauck, Johannes F. Coy, Ute Christine Rogner, Elke Pick, Jocelyn Laporte, Nina S. Heiss, Bernhard Korn, Renate Siebenhaar, Annemarie Poustka
Publikováno v:
Genomics. 33:365-373
The X-linked myotubular myopathy locus (MTM1) has been assigned to the Xq28 region by linkage analysis. By observation of an interstitial deletion in a female patient, the candidate region could be further reduced to a region of 600 kb flanked by the
Autor:
Petra Kioschis, Alexander Dietrich, Gail E. Herman, Wellong Gong, Annemarie Poustka, Klaus Wilke, Hans Lehrach, Ulrich Zechner, Ute Christine Rogner, Horst Hameister, Antonella Pragllola, John R.W. Yates, Elke Pick
Publikováno v:
Scopus-Elsevier
Xq28 has been of special interest in human genetics because a large number of diseases map to this region. As a step in the molecular analysis of the as yet uncloned disease genes, and as a test for the detailed analysis of larger regions of the geno
Autor:
Brunhilde Wirth, Andreas Leutner, S. Cox, A. Dadze, Sabine Rudnik-Schöneborn, J. Schönling, Elke Pick, Klaus Zerres, B. Voosen, Nigel K. Spurr, B. Piechaczek-Wappenschmidt, Michael Knapp
Publikováno v:
Genomics. 20(1)
The autosomal recessive proximal spinal muscular atrophy (SMA) gene was mapped to the region 5q11.2-q13.3 in 1990. Here, we present a large genetic linkage study of 100 SMA families and 11 CEPH families using 14 polymorphic simple sequence repeats (S
Publikováno v:
Human molecular genetics. 2(10)