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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
5
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pubmed:dateCreated |
1990-7-17
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pubmed:abstractText |
A three generation family with X linked myotubular myopathy (MTM1) was studied with several polymorphic markers from the distal long arm of the X chromosome. A recombination between the disease gene and four markers (loci DXS52, DXS134, DXS15, F8C) from the Xq28 cluster was detected. A new polymorphic marker (U6.2) defining the locus DXS304 in the Xq27-28 region proximal to the Xq28 cluster did not show any recombination with MTM1. These results suggest the following order of loci in distal Xq: cen-DXS42-DXS105-(DXS304, MTM1)-(DXS52, DXS134, DXS15, F8C)-tel.
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pubmed:commentsCorrections | |
pubmed:language |
eng
|
pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
May
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pubmed:issn |
0022-2593
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
27
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
288-91
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:1972196-Cell Nucleus,
pubmed-meshheading:1972196-Chromosome Aberrations,
pubmed-meshheading:1972196-DNA,
pubmed-meshheading:1972196-Genetic Linkage,
pubmed-meshheading:1972196-Genetic Markers,
pubmed-meshheading:1972196-Humans,
pubmed-meshheading:1972196-Infant, Newborn,
pubmed-meshheading:1972196-Male,
pubmed-meshheading:1972196-Multigene Family,
pubmed-meshheading:1972196-Muscular Atrophy,
pubmed-meshheading:1972196-Pedigree,
pubmed-meshheading:1972196-Polymorphism, Restriction Fragment Length,
pubmed-meshheading:1972196-Recombination, Genetic,
pubmed-meshheading:1972196-X Chromosome
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pubmed:year |
1990
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pubmed:articleTitle |
X linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28.
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pubmed:affiliation |
Department of Medical Genetics, University of Helsinki, Finland.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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