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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
12
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pubmed:dateCreated |
2008-12-2
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pubmed:abstractText |
Severe congenital neutropenia (SCN), also known as Kostmann syndrome (SCN3, OMIM 610738), includes a variety of haematological disorders caused by different genetic abnormalities. Mutations in ELA2 are most often the cause in autosomal dominant or sporadic forms. Recently, mutations in HAX1 have been identified as the cause of some autosomal recessive forms of SCN, including those present in the original pedigree first reported by Kostmann. We sought to determine the relationship between HAX1 gene mutations and the clinical characteristics of Japanese cases of SCN.
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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 |
Dec
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pubmed:issn |
1468-6244
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pubmed:author |
pubmed-author:HaraJJ,
pubmed-author:IshikawaNN,
pubmed-author:KawaguchiHH,
pubmed-author:KiharaHH,
pubmed-author:KobayashiMM,
pubmed-author:KojimaSS,
pubmed-author:MatsubaraKK,
pubmed-author:MikiMM,
pubmed-author:NakamuraKK,
pubmed-author:OhtsuboMM,
pubmed-author:OkadaSS,
pubmed-author:SakoMM,
pubmed-author:SatoTT,
pubmed-author:ShioharaMM,
pubmed-author:ShiraiAA,
pubmed-author:TakiharaYY,
pubmed-author:TsumuraMM,
pubmed-author:YasunagaSS
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pubmed:issnType |
Electronic
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pubmed:volume |
45
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
802-7
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:18611981-Adaptor Proteins, Signal Transducing,
pubmed-meshheading:18611981-Base Sequence,
pubmed-meshheading:18611981-Developmental Disabilities,
pubmed-meshheading:18611981-Female,
pubmed-meshheading:18611981-Homozygote,
pubmed-meshheading:18611981-Humans,
pubmed-meshheading:18611981-Infant,
pubmed-meshheading:18611981-Male,
pubmed-meshheading:18611981-Molecular Sequence Data,
pubmed-meshheading:18611981-Mutation,
pubmed-meshheading:18611981-Neutropenia,
pubmed-meshheading:18611981-Pedigree,
pubmed-meshheading:18611981-Proteins
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pubmed:year |
2008
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pubmed:articleTitle |
Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene.
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pubmed:affiliation |
Department of Pediatrics, Hiroshima, University Graduate School of Biomedical Sciences, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8551, Japan.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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