X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684)
about
MTM1 mutations in X-linked myotubular myopathyFine mapping of the dyskeratosis congenita locus in Xq28.The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies.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
Q28143326-50CF986E-F51E-4836-9E70-315B08E21038Q33678095-CBD720A1-B521-4ABA-94A2-D6221D08C5B5Q33682391-7A6B57D3-1D96-49BB-8A7E-450FAC46C13EQ35643534-45DFF1AB-993A-4A13-8DB4-53D4059E38A5Q35644299-2A26F7EE-47BD-494A-84B1-4463181793A8Q36804678-0DC776CD-76E2-4F33-9478-304C02D138C9Q36948074-01609CB5-B9FE-4C19-A898-5C5887C0A88AQ51012130-294491C7-A98B-4DD3-B64C-479AEEDF02BD
P2860
X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684)
description
1994 nî lūn-bûn
@nan
1994 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
X linked myotubular myopathy ( ...... icrosatellite marker (DXS1684)
@ast
X linked myotubular myopathy ( ...... icrosatellite marker (DXS1684)
@en
type
label
X linked myotubular myopathy ( ...... icrosatellite marker (DXS1684)
@ast
X linked myotubular myopathy ( ...... icrosatellite marker (DXS1684)
@en
prefLabel
X linked myotubular myopathy ( ...... icrosatellite marker (DXS1684)
@ast
X linked myotubular myopathy ( ...... icrosatellite marker (DXS1684)
@en
P2093
P2860
P356
P1476
X linked myotubular myopathy ( ...... icrosatellite marker (DXS1684)
@en
P2093
Kioschis P
P2860
P304
P356
10.1136/JMG.31.12.922
P407
P577
1994-12-01T00:00:00Z