Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds.
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Association Between Absolute Neutrophil Count and Variation at TCIRG1: The NHLBI Exome Sequencing Project.Distant homologs of anti-apoptotic factor HAX1 encode parvalbumin-like calcium binding proteins.HAX1 regulates E3 ubiquitin ligase activity of cIAPs by promoting their dimerizationPhenotypic heterogeneity and evidence of a founder effect associated with G6PC3 mutations in patients with severe congenital neutropeniaHax-1: a regulator of calcium signaling and apoptosis progression with multiple roles in human disease.Neurological findings and genetic alterations in patients with Kostmann syndrome and HAX1 mutations.Delayed Puberty and Gonadal Failure in Patients with HAX1 Mutation.Novel HAX1 gene mutations associated to neurodevelopment abnormalities in two Italian patients with severe congenital neutropenia.Genetic analysis and clinical picture of severe congenital neutropenia in Israel.Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia
P2860
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P2860
Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds.
description
2008 nî lūn-bûn
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2008年の論文
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2008年学术文章
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name
Homozygous HAX1 mutations in s ...... wo unrelated British kindreds.
@en
Homozygous HAX1 mutations in s ...... wo unrelated British kindreds.
@nl
type
label
Homozygous HAX1 mutations in s ...... wo unrelated British kindreds.
@en
Homozygous HAX1 mutations in s ...... wo unrelated British kindreds.
@nl
prefLabel
Homozygous HAX1 mutations in s ...... wo unrelated British kindreds.
@en
Homozygous HAX1 mutations in s ...... wo unrelated British kindreds.
@nl
P2093
P1476
Homozygous HAX1 mutations in s ...... wo unrelated British kindreds.
@en
P2093
Asim Khwaja
Bradley N Smith
David C Linch
Phil J Ancliff
Rosemary E Gale
P304
P356
10.1111/J.1365-2141.2008.07493.X
P407
P577
2008-11-22T00:00:00Z