Isolation and characterization of a highly polymorphic human locus (DXS455) in proximal 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)Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region.Complete sequence of a 38.4-kb human cosmid insert containing the polymorphic marker DXS455 from Xq28.Comparative mapping on the mouse X chromosome defines a myotubular myopathy equivalent region.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
Isolation and characterization of a highly polymorphic human locus (DXS455) in proximal Xq28.
description
1992 nî lūn-bûn
@nan
1992 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
Isolation and characterization ...... cus (DXS455) in proximal Xq28.
@ast
Isolation and characterization ...... cus (DXS455) in proximal Xq28.
@en
type
label
Isolation and characterization ...... cus (DXS455) in proximal Xq28.
@ast
Isolation and characterization ...... cus (DXS455) in proximal Xq28.
@en
prefLabel
Isolation and characterization ...... cus (DXS455) in proximal Xq28.
@ast
Isolation and characterization ...... cus (DXS455) in proximal Xq28.
@en
P2093
P1433
P1476
Isolation and characterization ...... cus (DXS455) in proximal Xq28.
@en
P2093
Consalez GG
Freimer NB
Gilliam TC
Goonewardena P
Stayton CL
P304
P356
10.1016/0888-7543(92)90299-8
P577
1992-04-01T00:00:00Z