rdf:type |
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lifeskim:mentions |
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pubmed:issue |
8588
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pubmed:dateCreated |
1988-5-2
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pubmed:abstractText |
Analysis of X chromosome inactivation in T-lymphocyte DNA from two obligate carriers of X-linked severe combined immunodeficiency showed a non-random pattern. This method was then used to establish carrier status in at-risk females in X-linked pedigrees. It was further used to differentiate between X-linked and autosomal recessive inheritance of the disease when the mode of inheritance was not clear from the pedigree. In addition, a mother of a boy affected by the sporadic form of the disease was found to have non-random X inactivation in her T lymphocytes and she is therefore a carrier of the X-linked disease.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
|
pubmed:citationSubset |
AIM
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pubmed:chemical |
|
pubmed:status |
MEDLINE
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pubmed:month |
Apr
|
pubmed:issn |
0140-6736
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pubmed:author |
|
pubmed:issnType |
Print
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pubmed:day |
2
|
pubmed:volume |
1
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
729-32
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:2895261-Chromosome Mapping,
pubmed-meshheading:2895261-DNA,
pubmed-meshheading:2895261-Dosage Compensation, Genetic,
pubmed-meshheading:2895261-Female,
pubmed-meshheading:2895261-Genetic Linkage,
pubmed-meshheading:2895261-Heterozygote Detection,
pubmed-meshheading:2895261-Humans,
pubmed-meshheading:2895261-Hypoxanthine Phosphoribosyltransferase,
pubmed-meshheading:2895261-Immunologic Deficiency Syndromes,
pubmed-meshheading:2895261-Male,
pubmed-meshheading:2895261-Nucleic Acid Hybridization,
pubmed-meshheading:2895261-Pedigree,
pubmed-meshheading:2895261-Phosphoglycerate Kinase,
pubmed-meshheading:2895261-Polymorphism, Restriction Fragment Length,
pubmed-meshheading:2895261-Sex Chromosome Aberrations,
pubmed-meshheading:2895261-T-Lymphocytes
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pubmed:year |
1988
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pubmed:articleTitle |
Use of X chromosome inactivation analysis to establish carrier status for X-linked severe combined immunodeficiency.
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pubmed:affiliation |
Department of Immunology, Institute of Child Health, London.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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