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Volumn 32, Issue 5, 2007, Pages 502-505

Pure hair-nail ectodermal dysplasia maps to chromosome 12p11.1-q21.1 in a consanguineous Pakistani family

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Indexed keywords

KERATIN;

EID: 34547822431     PISSN: 03076938     EISSN: 13652230     Source Type: Journal    
DOI: 10.1111/j.1365-2230.2007.02413.x     Document Type: Article
Times cited : (9)

References (10)
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    • A novel locus of ectodermal dysplasia maps to chromosome 10q24.32-q25.1
    • Rafiq MA, Faiyaz -u, l-Haque M et al. A novel locus of ectodermal dysplasia maps to chromosome 10q24.32-q25.1. J Invest Dermatol 2005 124 : 338 42.
    • (2005) J Invest Dermatol , vol.124 , pp. 338-42
    • Rafiq, M.A.1    Faiyaz, -U.2    L-Haque, M.3
  • 2
    • 33645121546 scopus 로고    scopus 로고
    • A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type
    • Naeem M, Wajid M, Lee K et al. A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type. J Med Genet 2006 43 : 274 9.
    • (2006) J Med Genet , vol.43 , pp. 274-9
    • Naeem, M.1    Wajid, M.2    Lee, K.3
  • 3
    • 0032231877 scopus 로고    scopus 로고
    • Comprehensive human genetic maps. individual and sex-specific variation in recombination
    • Broman KW, Murray JC, Sheffield VC et al. Comprehensive human genetic maps. individual and sex-specific variation in recombination. Am J Hum Genet 1998 63 : 861 9.
    • (1998) Am J Hum Genet , vol.63 , pp. 861-9
    • Broman, K.W.1    Murray, J.C.2    Sheffield, V.C.3
  • 5
    • 0029945706 scopus 로고    scopus 로고
    • Descent graphs in pedigree analysis. applications to haplotyping, location scores, and marker-sharing statistics
    • Sobel E, Lange K. Descent graphs in pedigree analysis. applications to haplotyping, location scores, and marker-sharing statistics. Am J Hum Genet 1996 58 : 1323 37.
    • (1996) Am J Hum Genet , vol.58 , pp. 1323-37
    • Sobel, E.1    Lange, K.2
  • 6
    • 0027432652 scopus 로고
    • Incorrect specification of marker allele frequencies: Effects on linkage analysis
    • Freimer NB, Sandkuijl LA, Blower SM. Incorrect specification of marker allele frequencies: effects on linkage analysis. Am J Hum Genet 1993 52 : 1102 10.
    • (1993) Am J Hum Genet , vol.52 , pp. 1102-10
    • Freimer, N.B.1    Sandkuijl, L.A.2    Blower, S.M.3
  • 7
    • 0030747138 scopus 로고    scopus 로고
    • Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix
    • Winter H, Rogers MA, Langbein L et al. Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix. Nat Genet 1997b 16 : 372 4.
    • (1997) Nat Genet , vol.16 , pp. 372-4
    • Winter, H.1    Rogers, M.A.2    Langbein, L.3
  • 8
    • 25144471458 scopus 로고    scopus 로고
    • A missense mutation in the type II hair keratin hHb3 is associated with monilethrix
    • van Steensel MA, Steijlen PM, Bladergroen RS et al. A missense mutation in the type II hair keratin hHb3 is associated with monilethrix. J Med Genet 2005 42 : e19.
    • (2005) J Med Genet , vol.42
    • Van Steensel, M.A.1    Steijlen, P.M.2    Bladergroen, R.S.3
  • 9
    • 0035817630 scopus 로고    scopus 로고
    • Discovery of a novel murine keratin 6 (K6) isoform explains the absence of hair and nail defects in mice deficient for K6a and K6b
    • Wojcik SM, Longley MA, Roop DR. Discovery of a novel murine keratin 6 (K6) isoform explains the absence of hair and nail defects in mice deficient for K6a and K6b. J Cell Biol 2001 154 : 619 30.
    • (2001) J Cell Biol , vol.154 , pp. 619-30
    • Wojcik, S.M.1    Longley, M.A.2    Roop, D.R.3
  • 10
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    • An unusual Ala12Thr polymorphism in the 1A alpha-helical segment of the companion layer-specific keratin K6hf: Evidence for a risk factor in the etiology of the common hair disorder pseudofolliculitis barbae
    • Winter H, Schissel D, Parry DA et al. An unusual Ala12Thr polymorphism in the 1A alpha-helical segment of the companion layer-specific keratin K6hf: evidence for a risk factor in the etiology of the common hair disorder pseudofolliculitis barbae. J Invest Dermatol 2004 122 : 652 7.
    • (2004) J Invest Dermatol , vol.122 , pp. 652-7
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.