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Volumn 118 A, Issue 3, 2003, Pages 299-301

Absence of RECQL4 mutations in poikiloderma with neutropenia in Navajo and non-Navajo patients [3]

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; FEMALE; GENE MUTATION; HUMAN; INDIAN; LETTER; LUNG DISEASE; MALE; NAIL DISEASE; NEUTROPENIA; PACHYONYCHIA; POIKILODERMA; PRIORITY JOURNAL; RASH; RESPIRATORY TRACT INFECTION; ROTHMUND THOMSON SYNDROME; SEQUENCE ANALYSIS; SHORT STATURE;

EID: 0042321147     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter
Times cited : (30)

References (11)
  • 1
    • 33646208195 scopus 로고
    • Immune deficient poikiloderma: A new genodermatosis
    • Clericuzio C, Hoyme HE, Aase JM. 1991. Immune deficient poikiloderma: A new genodermatosis. Am J Hum Genet 49(Suppl):A661.
    • (1991) Am J Hum Genet , vol.49 , Issue.SUPPL.
    • Clericuzio, C.1    Hoyme, H.E.2    Aase, J.M.3
  • 2
    • 0033123482 scopus 로고    scopus 로고
    • Southwestern Athabaskan (Navajo and Apache) genetic diseases
    • Erickson RP. 1999. Southwestern Athabaskan (Navajo and Apache) genetic diseases. Genet Med 1:151-157.
    • (1999) Genet Med , vol.1 , pp. 151-157
    • Erickson, R.P.1
  • 5
    • 0034737004 scopus 로고    scopus 로고
    • Rothmund-Thomson syndrome due to RECQ4 helicase mutations: Report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome
    • Lindor NM, Furuichi Y, Kitao S, Shimamoto A, Arndt C, Jalal S. 2000. Rothmund-Thomson syndrome due to RECQ4 helicase mutations: Report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. Am J Med Genet 90:223-228.
    • (2000) Am J Med Genet , vol.90 , pp. 223-228
    • Lindor, N.M.1    Furuichi, Y.2    Kitao, S.3    Shimamoto, A.4    Arndt, C.5    Jalal, S.6
  • 8
    • 33646211364 scopus 로고    scopus 로고
    • Navajo poikiloderma with cyclic neutropenia in Turkish children, clinical description and exclusion of linkage to the Rothmund-Thomson RECQL4 gene
    • van Hove JL, Grunewald S, Minner K, van Geet C, Matthijs G. 2000. Navajo poikiloderma with cyclic neutropenia in Turkish children, clinical description and exclusion of linkage to the Rothmund-Thomson RECQL4 gene. Am J Hum Genet 67(Suppl 2):A634.
    • (2000) Am J Hum Genet , vol.67 , Issue.SUPPL. 2
    • Van Hove, J.L.1    Grunewald, S.2    Minner, K.3    Van Geet, C.4    Matthijs, G.5
  • 11
    • 0021369103 scopus 로고
    • Isolated absence of nasal cilia: A case report
    • Welch MJ, Stiehm ER, Dudley JP. 1984. Isolated absence of nasal cilia: A case report. Ann Allergy 52:32-34.
    • (1984) Ann Allergy , vol.52 , pp. 32-34
    • Welch, M.J.1    Stiehm, E.R.2    Dudley, J.P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.