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American Journal of Hematology
Volumn 86, Issue 2, 2011, Pages 235-237
Variability of bone marrow morphology in G6PC3 mutations: Is there a genotype-phenotype correlation or age-dependent relationship?
Author keywords

[No Author keywords available]
Indexed keywords

ADULT; AGE DISTRIBUTION; ALLELE; BONE MARROW EXAMINATION; CELL STRUCTURE; CHILD; CLINICAL ARTICLE; ETHNICITY; FEMALE; G6PC3 GENE; GENE EXPRESSION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; LETTER; MALE; MUTATION; NEUTROPENIA; PRESCHOOL CHILD; PRIORITY JOURNAL; RACE DIFFERENCE; SCHOOL CHILD;
EID: 78851470709     PISSN: 03618609     EISSN: 10968652     Source Type: Journal    
DOI: 10.1002/ajh.21930     Document Type: Letter
Times cited : (24)
References (8)
  • 1
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    • A syndrome with congenital neutropenia and mutations in G6PC3
    • Boztug K, Appaswamy G, Ashikov A, et al. A syndrome with congenital neutropenia and mutations in G6PC3. N Engl J Med 2009; 360: 32-43.
    • (2009) N Engl J Med , vol.360 , pp. 32-43
    • Boztug, K.1    Appaswamy, G.2    Ashikov, A.3
  • 3
    • 77957943766 scopus 로고    scopus 로고
    • Severe congenital neutropenia due to G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis
    • McDermott DH, De Ravin SS, Jun HS, et al. Severe congenital neutropenia due to G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis. Blood, 2010; 116: 2793-2802.
    • (2010) Blood , vol.116 , pp. 2793-2802
    • McDermott, D.H.1    De Ravin, S.S.2    Jun, H.S.3
  • 4
    • 85028120628 scopus 로고    scopus 로고
    • Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3
    • in press; doi: 10.1038/ejhg.2010.136
    • Banka S, Chervinsky E, Newman WG, et al. Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3. Eur J Hum Genet, in press; doi: 10.1038/ejhg.2010.136
    • Eur J Hum Genet
    • Banka, S.1    Chervinsky, E.2    Newman, W.G.3
  • 5
    • 70350435426 scopus 로고    scopus 로고
    • Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia
    • Xia J, Bolyard AA, Rodger E, et al. Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia. Br J Haematol 2009; 147: 535-542.
    • (2009) Br J Haematol , vol.147 , pp. 535-542
    • Xia, J.1    Bolyard, A.A.2    Rodger, E.3
  • 6
    • 70349561436 scopus 로고    scopus 로고
    • A novel G6PC3 homozygous 1-bp deletion as a cause of severe congenital neutropenia
    • Arostegui JI, de Toledo JS, Pascal M, et al. A novel G6PC3 homozygous 1-bp deletion as a cause of severe congenital neutropenia. Blood 2009; 114: 1718-1719.
    • (2009) Blood , vol.114 , pp. 1718-1719
    • Arostegui, J.I.1    de Toledo, J.S.2    Pascal, M.3
  • 7
    • 58149240054 scopus 로고    scopus 로고
    • Familial pulmonary arterial hypertension, leucopenia, and atrial septal defect: a probable new familial syndrome with multisystem involvement
    • Dursun A, Ozgul RK, Soydas A, et al. Familial pulmonary arterial hypertension, leucopenia, and atrial septal defect: a probable new familial syndrome with multisystem involvement. Clin Dysmorphol 2009; 18: 19-23.
    • (2009) Clin Dysmorphol , vol.18 , pp. 19-23
    • Dursun, A.1    Ozgul, R.K.2    Soydas, A.3
  • 8
    • 77954477084 scopus 로고    scopus 로고
    • Digenic mutations in severe congenital neutropenia
    • Germeshausen M, Zeidler C, Stuhrmann M, et al. Digenic mutations in severe congenital neutropenia. Haematologica 2010; 95: 1207-1210.
    • (2010) Haematologica , vol.95 , pp. 1207-1210
    • Germeshausen, M.1    Zeidler, C.2    Stuhrmann, M.3

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.