A linkage study of a large pedigree with X linked centronuclear myopathy.
about
Germline mosaicism in X-linked myotubular myopathyX linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684)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.Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal DiagnosisDeletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region.
P2860
Q28143254-09452796-9CF5-4480-8A07-186885D13C9BQ33596265-F2B697FD-4D1D-4E51-9BAA-B9F9D6883CE5Q33682391-4104B764-0DEE-405B-A138-B9A557D48CF5Q35643534-EC621A90-B576-49F1-81FD-7B9A5EA4B44BQ35644299-29F3C1B3-EDCA-4FA8-934D-C13919D6FBD6Q36804678-862423E8-5B37-4871-9FE8-EA3EF938C266Q36948074-7D179D69-6909-4327-BB83-3915FD501BEEQ42373276-9674A92A-C864-4ACE-9D30-55E8EB24E1C5Q51012130-33B27064-0C56-415A-9990-F011B350205B
P2860
A linkage study of a large pedigree with X linked centronuclear myopathy.
description
1990 nî lūn-bûn
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1990 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1990 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1990年の論文
@ja
1990年論文
@yue
1990年論文
@zh-hant
1990年論文
@zh-hk
1990年論文
@zh-mo
1990年論文
@zh-tw
1990年论文
@wuu
name
A linkage study of a large pedigree with X linked centronuclear myopathy.
@ast
A linkage study of a large pedigree with X linked centronuclear myopathy.
@en
type
label
A linkage study of a large pedigree with X linked centronuclear myopathy.
@ast
A linkage study of a large pedigree with X linked centronuclear myopathy.
@en
prefLabel
A linkage study of a large pedigree with X linked centronuclear myopathy.
@ast
A linkage study of a large pedigree with X linked centronuclear myopathy.
@en
P2093
P2860
P356
P1476
A linkage study of a large pedigree with X linked centronuclear myopathy.
@en
P2093
P2860
P304
P356
10.1136/JMG.27.5.281
P407
P577
1990-05-01T00:00:00Z