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Volumn 76, Issue 6, 2009, Pages 569-572

A novel missense mutation in the HAX1 gene in severe congenital neutropenia patients (Kostmann disease)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; LEUCINE; PHENYLALANINE; PROTEIN HAX1; RECOMBINANT GRANULOCYTE COLONY STIMULATING FACTOR; UNCLASSIFIED DRUG;

EID: 70749106899     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01244.x     Document Type: Letter
Times cited : (5)

References (9)
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    • Klein C, Grudzien M, Appaswamy G. HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). Nat Genet 2007, 39:86-92.
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    • Klein, C.1    Grudzien, M.2    Appaswamy, G.3
  • 2
    • 0014882993 scopus 로고
    • Congenital agranulocytosis: prolonged survival and terminal acute leukemia
    • Gilman PA, Jackson DP, Guild HG. Congenital agranulocytosis: prolonged survival and terminal acute leukemia. Blood 1970, 36:576-585.
    • (1970) Blood , vol.36 , pp. 576-585
    • Gilman, P.A.1    Jackson, D.P.2    Guild, H.G.3
  • 3
    • 51649124219 scopus 로고    scopus 로고
    • Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specific HAX1 mutations
    • Carlsson G, van't Hooft I, Melin M. Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specific HAX1 mutations. J Intern Med 2008, 264:388-400.
    • (2008) J Intern Med , vol.264 , pp. 388-400
    • Carlsson, G.1    van't Hooft, I.2    Melin, M.3
  • 4
    • 42049117271 scopus 로고    scopus 로고
    • Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations
    • Germeshausen M, Grudzien M, Zeidler C. Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations. Blood 2008, 111:4954-4957.
    • (2008) Blood , vol.111 , pp. 4954-4957
    • Germeshausen, M.1    Grudzien, M.2    Zeidler, C.3
  • 5
    • 57349091704 scopus 로고    scopus 로고
    • Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene
    • Ishikawa N, Okada S, Miki M. Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene. J Med Genet 2008, 45:802-807.
    • (2008) J Med Genet , vol.45 , pp. 802-807
    • Ishikawa, N.1    Okada, S.2    Miki, M.3
  • 6
    • 58849137097 scopus 로고    scopus 로고
    • Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds.
    • Smith BN, Ancliff PJ, Pizzey A. Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds. Br J Haematol 2009, 144(5):762-770.
    • (2009) Br J Haematol , vol.144 , Issue.5 , pp. 762-770
    • Smith, B.N.1    Ancliff, P.J.2    Pizzey, A.3
  • 7
    • 41549148667 scopus 로고    scopus 로고
    • Association of HAX1 deficiency with neurological disorder.
    • Rezaei N, Chavoshzadeh Z, R Alaei O. Association of HAX1 deficiency with neurological disorder. Neuropediatrics 2007, 38:261-263.
    • (2007) Neuropediatrics , vol.38 , pp. 261-263
    • Rezaei, N.1    Chavoshzadeh, Z.2    R Alaei, O.3
  • 8
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    • Severe developmental delay and epilepsy in a Japanese patient with severe congenital neutropenia due to HAX1 deficiency
    • Matsubara K, Imai K, Okada S. Severe developmental delay and epilepsy in a Japanese patient with severe congenital neutropenia due to HAX1 deficiency. Haematologica 2007, 92:e123-e125.
    • (2007) Haematologica , vol.92
    • Matsubara, K.1    Imai, K.2    Okada, S.3
  • 9
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    • Human non-synonymous SNPs: server and survey
    • Ramensky V, Bork P, Sunyaev S. Human non-synonymous SNPs: server and survey. Nucleic Acids Res 2002, 30:3894-3900.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.