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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 |
1998-2-17
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pubmed:abstractText |
To determine the utility of single-stranded conformation polymorphism (SSCP) analysis for mutation screening in the BTK (Bruton's tyrosine kinase) gene, we investigated 56 X-linked agammaglobulinemia (XLA) families. To obtain genotype/ phenotype correlations, predicted protein aberrations were correlated with the clinical course of the disease.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
1098-4275
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pubmed:author |
pubmed-author:BäckesjöC MCM,
pubmed-author:BelohradskyB HBH,
pubmed-author:BrandaoAA,
pubmed-author:Holinski-FederEE,
pubmed-author:HubbardS RSR,
pubmed-author:JedeleK BKB,
pubmed-author:MeindlAA,
pubmed-author:NoroHH,
pubmed-author:SmithC ICI,
pubmed-author:VihinenMM,
pubmed-author:WeissMM
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pubmed:issnType |
Electronic
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pubmed:volume |
101
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
276-84
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pubmed:dateRevised |
2011-11-2
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pubmed:meshHeading |
pubmed-meshheading:9445504-Adolescent,
pubmed-meshheading:9445504-Adult,
pubmed-meshheading:9445504-Agammaglobulinemia,
pubmed-meshheading:9445504-Base Sequence,
pubmed-meshheading:9445504-Blotting, Western,
pubmed-meshheading:9445504-Case-Control Studies,
pubmed-meshheading:9445504-Child,
pubmed-meshheading:9445504-Child, Preschool,
pubmed-meshheading:9445504-DNA Mutational Analysis,
pubmed-meshheading:9445504-Genetic Linkage,
pubmed-meshheading:9445504-Genotype,
pubmed-meshheading:9445504-Humans,
pubmed-meshheading:9445504-Male,
pubmed-meshheading:9445504-Mutation,
pubmed-meshheading:9445504-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:9445504-Promoter Regions, Genetic,
pubmed-meshheading:9445504-Protein Structure, Tertiary,
pubmed-meshheading:9445504-Protein-Tyrosine Kinases,
pubmed-meshheading:9445504-X Chromosome
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pubmed:year |
1998
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pubmed:articleTitle |
Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course.
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pubmed:affiliation |
Abteilung Medizinische Genetik, Klinikum Innenstadt, Universität München, Germany.
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pubmed:publicationType |
Journal Article
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