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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 |
2000-7-14
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pubmed:abstractText |
This study reports a new X-linked agammaglobulinemia (XLA) mutation and its phenotypic features in a 6(1/2)-year-old boy. Different clinically defined subtypes of XLA may exist according to different genetic alterations and to other defect signalling molecules or pathways of B cell maturation.
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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 |
Apr
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pubmed:issn |
0141-9854
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pubmed:author |
|
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pubmed:issnType |
Print
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pubmed:volume |
22
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
123-5
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pubmed:dateRevised |
2011-11-2
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pubmed:meshHeading |
pubmed-meshheading:10792406-Agammaglobulinemia,
pubmed-meshheading:10792406-Child,
pubmed-meshheading:10792406-DNA Mutational Analysis,
pubmed-meshheading:10792406-Exons,
pubmed-meshheading:10792406-Frameshift Mutation,
pubmed-meshheading:10792406-Humans,
pubmed-meshheading:10792406-Immunoglobulins, Intravenous,
pubmed-meshheading:10792406-Male,
pubmed-meshheading:10792406-Phenotype,
pubmed-meshheading:10792406-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:10792406-Protein-Tyrosine Kinases,
pubmed-meshheading:10792406-Sex Chromosome Aberrations,
pubmed-meshheading:10792406-X Chromosome
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pubmed:year |
2000
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pubmed:articleTitle |
Identification of a new Bruton's tyrosine kinase (BTK) mutation associated with a mild phenotype in a child with X-linked agammaglobulinemia (XLA).
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pubmed:affiliation |
Division of Hematology/Oncology, University Children's Hospital Basel, Römergasse 8, CH-4005 Basel, Switzerland.
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pubmed:publicationType |
Journal Article,
Case Reports
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