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Volumn 8, Issue 4, 1999, Pages 310-312

Point mutation in the helix termination peptide (HTP) of human type II hair keratin hHb6 causes monilethrix in five families

Author keywords

[No Author keywords available]

Indexed keywords

CYTOKERATIN;

EID: 0032814123     PISSN: 09066705     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Conference Paper
Times cited : (5)

References (15)
  • 1
    • 0000843017 scopus 로고
    • Monilethrix: Report of 3 cases with extensive family history
    • Alexander J O D, Grant P. Monilethrix: report of 3 cases with extensive family history. Scot Med J 1958: 3: 356-360.
    • (1958) Scot Med J , vol.3 , pp. 356-360
    • Alexander, J.O.D.1    Grant, P.2
  • 2
    • 9844219733 scopus 로고    scopus 로고
    • Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expressivity
    • Birch-Machin M A, Healy E, Turner R et al. Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expressivity. Br J Dermatol 1997: 137: 339-343.
    • (1997) Br J Dermatol , vol.137 , pp. 339-343
    • Birch-Machin, M.A.1    Healy, E.2    Turner, R.3
  • 3
    • 0014533207 scopus 로고
    • Autoradiographic studies of hair growth and rhythm in monilethrix
    • Comaish S. Autoradiographic studies of hair growth and rhythm in monilethrix. Br J Dermatol 1969: 81: 443-447.
    • (1969) Br J Dermatol , vol.81 , pp. 443-447
    • Comaish, S.1
  • 4
    • 0026572211 scopus 로고
    • Variations in the beading configuration in monilethrix
    • De Berker D, Dawber R P R. Variations in the beading configuration in monilethrix. Pédiatric Dermatol 1992: 9: 19-21.
    • (1992) Pédiatric Dermatol , vol.9 , pp. 19-21
    • De Berker, D.1    Dawber, R.P.R.2
  • 5
    • 0027394201 scopus 로고
    • Monilethrix, a clinicopathological illustration of a cortical defect
    • De Berker D A, Ferguson D J, Dawber R P R. Monilethrix, a clinicopathological illustration of a cortical defect. Br J Dermatol 1993: 128: 327-331.
    • (1993) Br J Dermatol , vol.128 , pp. 327-331
    • De Berker, D.A.1    Ferguson, D.J.2    Dawber, R.P.R.3
  • 7
    • 0009678502 scopus 로고
    • Zur kenntnis des monilethrix-syndroms
    • Heydt G E. Zur Kenntnis des Monilethrix-Syndroms. Arch Klin Exp Dermatol 1963: 217: 15-29.
    • (1963) Arch Klin Exp Dermatol , vol.217 , pp. 15-29
    • Heydt, G.E.1
  • 8
    • 0024986411 scopus 로고
    • Pathogenesis of monilethrix: Computer stereography and electron microscopy
    • Ito M, Hashimoto K, Katsuumi K, Sato Y. Pathogenesis of monilethrix: computer stereography and electron microscopy. J Invest Dermatol 1990. 95: 186-194.
    • (1990) J Invest Dermatol , vol.95 , pp. 186-194
    • Ito, M.1    Hashimoto, K.2    Katsuumi, K.3    Sato, Y.4
  • 9
    • 0345168567 scopus 로고    scopus 로고
    • Monilethrix links to the keratin type II cluster at 12q13 and cloning of a possible candidate gene
    • Korge B P, Richard G, Pünter C et al. Monilethrix links to the keratin type II cluster at 12q13 and cloning of a possible candidate gene. J Invest Dermatol 1996: 106: 843.
    • (1996) J Invest Dermatol , vol.106 , pp. 843
    • Korge, B.P.1    Richard, G.2    Pünter, C.3
  • 12
    • 0040381681 scopus 로고
    • IF pathology: Molecular consequences of rod and end domain mutations
    • Parry D A D, Steinert P M (eds). Medical Intelligence Unit, RG Landes, Austin
    • Steinert P M. IF Pathology: Molecular consequences of rod and end domain mutations. In: Parry D A D, Steinert P M (eds). Intermediate filament structure. Medical Intelligence Unit, RG Landes, Austin, 1995: pp. 145-175.
    • (1995) Intermediate Filament Structure , pp. 145-175
    • Steinert, P.M.1
  • 14
    • 0344306115 scopus 로고
    • Inaugural thesis, medical faculty of the university of Münster, Germany
    • Tietze: Monilethrix: Genetik, Klinik, Begleitsymptomatik und Krankheitsverlauf. Inaugural thesis, medical faculty of the university of Münster, Germany, 1995.
    • (1995) Begleitsymptomatik und Krankheitsverlauf
    • Genetik, T.M.1
  • 15
    • 0030747138 scopus 로고    scopus 로고
    • Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix
    • Winter H, Rogers M A, Langbein L et al. Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix. Nature Genet 1997: 16: 372-374.
    • (1997) Nature Genet , vol.16 , pp. 372-374
    • Winter, H.1    Rogers, M.A.2    Langbein, L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.