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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
3
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pubmed:dateCreated |
1996-6-11
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pubmed:abstractText |
The relationships between paroxysmal nocturnal hemoglobinuria (PNH), aplastic anemia (AA), and myelodysplastic syndrome (MDS) are not clear. Here we describe a patient, J20, who developed a reciprocal translocation of chromosome 12 and PNH during follow-up of AA. All metaphases in CD59-deficient bone marrow mononuclear cells had the translocation, whereas none of the CD59-deficient cells had it, indicating that the PNH clone coincided with a cell population bearing the chromosomal aberration. We found a somatic single-base deletion mutation in the PIG-A gene of this patient's peripheral blood cells. This is the first patient with PNH with a PNH clone containing a chromosomal translocation.
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pubmed:commentsCorrections | |
pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Mar
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pubmed:issn |
0361-8609
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
51
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
229-33
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:8619404-Adult,
pubmed-meshheading:8619404-Anemia, Aplastic,
pubmed-meshheading:8619404-Antigens, CD59,
pubmed-meshheading:8619404-Base Sequence,
pubmed-meshheading:8619404-Bone Marrow,
pubmed-meshheading:8619404-Chromosomes, Human, Pair 12,
pubmed-meshheading:8619404-Erythrocytes,
pubmed-meshheading:8619404-Female,
pubmed-meshheading:8619404-Glycosylphosphatidylinositols,
pubmed-meshheading:8619404-Granulocytes,
pubmed-meshheading:8619404-Hemoglobinuria, Paroxysmal,
pubmed-meshheading:8619404-Humans,
pubmed-meshheading:8619404-Karyotyping,
pubmed-meshheading:8619404-Molecular Sequence Data,
pubmed-meshheading:8619404-Translocation, Genetic
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pubmed:year |
1996
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pubmed:articleTitle |
Analysis of PIG-A gene in a patient who developed reciprocal translocation of chromosome 12 and paroxysmal nocturnal hemoglobinuria during follow-up of aplastic anemia.
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pubmed:affiliation |
Department of Hematology and Oncology, Osaka University Medical School, Japan.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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