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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
1995-4-27
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pubmed:abstractText |
We present molecular data from 90 Greek boys with Duchenne or Becker muscular dystrophy using cDNA analysis or multiplex PCR or both. Deletions were detected in 63.3% of patients and were mainly clustered in two areas of the gene, one in the 3' and one in the 5' end of the gene (exons 3-19 and 44-53). Almost 17% of deletion breakpoints lay in intron 44 while 29% of deletions have a breakpoint in intron 50. Thus the distribution of deletions in our DMD/BMD patients differs from that previously reported. Furthermore a 1:4.35 proximal:distal ratio was observed in familial cases and a 1:2.45 ratio in isolated ones.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/7897627-1415256,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7897627-1652548,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7897627-1681728,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7897627-1865467,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7897627-1928100,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7897627-2016084,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7897627-2182872,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7897627-2191136,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7897627-2570401,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7897627-2573997,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7897627-2889148,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7897627-2890901,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7897627-2897793,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7897627-2900805,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7897627-2903663,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7897627-3169738,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7897627-3398004,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7897627-3607877,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7897627-8099058
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
0022-2593
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
32
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
48-51
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
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pubmed:year |
1995
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pubmed:articleTitle |
Deletion patterns of Duchenne and Becker muscular dystrophies in Greece.
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pubmed:affiliation |
1st Department of Paediatrics, Athens University, Aghia Sophia Children's Hospital, Greece.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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