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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
1994-11-18
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pubmed:abstractText |
The results of DNA analysis for the unstable CTG repeat are reported in a french family of myotonic dystrophy. This retrospective study confirms results obtained previously with a linked DNA marker, using the CTG repeat DNA sequence in the same family. The demonstrated possibility of predicting phenotype as well as genotype in prenatal diagnosis is important for such a disorder, were subjects may be severely affected.
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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:issn |
1015-8146
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
5
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
171-4
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:7917127-Adult,
pubmed-meshheading:7917127-Apolipoprotein C-II,
pubmed-meshheading:7917127-Apolipoproteins C,
pubmed-meshheading:7917127-Cardiotocography,
pubmed-meshheading:7917127-Chorionic Villi Sampling,
pubmed-meshheading:7917127-DNA Probes,
pubmed-meshheading:7917127-Female,
pubmed-meshheading:7917127-Genetic Counseling,
pubmed-meshheading:7917127-Genetic Linkage,
pubmed-meshheading:7917127-Genetic Markers,
pubmed-meshheading:7917127-Humans,
pubmed-meshheading:7917127-Infant, Newborn,
pubmed-meshheading:7917127-Myotonic Dystrophy,
pubmed-meshheading:7917127-Pedigree,
pubmed-meshheading:7917127-Phenotype,
pubmed-meshheading:7917127-Polymorphism, Genetic,
pubmed-meshheading:7917127-Pregnancy,
pubmed-meshheading:7917127-Prenatal Diagnosis,
pubmed-meshheading:7917127-Retrospective Studies
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pubmed:year |
1994
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pubmed:articleTitle |
Prenatal diagnosis for the unstable CTG repeat sequence in myotonic dystrophy: a retrospective study in a French family.
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pubmed:affiliation |
Centre régional de Neurogénétique, CHU de Reims, France.
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pubmed:publicationType |
Journal Article
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