X linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28
about
X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684)Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneityThe myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies.Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: the results of a collaborative study.Genetic linkage heterogeneity in myotubular myopathy.Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region.Comparative mapping on the mouse X chromosome defines a myotubular myopathy equivalent region.Centronuclear (myotubular) myopathy.Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region.
P2860
Q33596265-D620FE2B-48B3-4A67-B9BF-AA06216CC335Q33680403-6F6A5B88-4E09-4FE4-9280-27BFBBA81F7FQ33682391-1924F3D5-019C-4130-873B-2BB543F43B47Q35196456-CAB147D8-D5E3-45F7-893B-8496D794F7FFQ35643534-C5D0E843-EBC3-47B1-AB97-403437E3772BQ35644299-5A4E69BB-E968-48E2-9AFC-3F7EA3E793B5Q36804678-A97EA40C-630F-4A8D-8869-80CAA513C428Q36948074-6D9881C8-7B04-4B72-A9D6-A3A34DA466D5Q51012130-B43D9715-3C9D-4805-A03D-445343D107F9
P2860
X linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28
description
1990 nî lūn-bûn
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1990 թուականի Մայիսին հրատարակուած գիտական յօդուած
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1990 թվականի մայիսին հրատարակված գիտական հոդված
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1990年の論文
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1990年論文
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1990年論文
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1990年論文
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1990年論文
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1990年論文
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1990年论文
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name
X linked neonatal myotubular m ...... ymorphic DNA markers from Xq28
@ast
X linked neonatal myotubular m ...... ymorphic DNA markers from Xq28
@en
X linked neonatal myotubular m ...... ymorphic DNA markers from Xq28
@en-gb
X linked neonatal myotubular m ...... ymorphic DNA markers from Xq28
@nl
type
label
X linked neonatal myotubular m ...... ymorphic DNA markers from Xq28
@ast
X linked neonatal myotubular m ...... ymorphic DNA markers from Xq28
@en
X linked neonatal myotubular m ...... ymorphic DNA markers from Xq28
@en-gb
X linked neonatal myotubular m ...... ymorphic DNA markers from Xq28
@nl
prefLabel
X linked neonatal myotubular m ...... ymorphic DNA markers from Xq28
@ast
X linked neonatal myotubular m ...... ymorphic DNA markers from Xq28
@en
X linked neonatal myotubular m ...... ymorphic DNA markers from Xq28
@en-gb
X linked neonatal myotubular m ...... ymorphic DNA markers from Xq28
@nl
P2093
P356
P1476
X linked neonatal myotubular m ...... ymorphic DNA markers from Xq28
@en
P2093
A E Lehesjoki
A de la Chapelle
E M Sankila
P304
P356
10.1136/JMG.27.5.288
P407
P577
1990-05-01T00:00:00Z