메뉴 건너뛰기




Volumn 62, Issue 11, 2012, Pages 1244-1247

A novel mutation in MCPH1 gene in an Iranian family with primary microcephaly

Author keywords

Iran; Mental retardation; Novel mutation; Primary Microcephaly

Indexed keywords

MICROSATELLITE DNA;

EID: 84868548074     PISSN: 00309982     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (9)

References (10)
  • 1
    • 0036302105 scopus 로고    scopus 로고
    • Identification of microcephalin, a protein implicated in determining the size of the human brain
    • Jackson AP, Eastwood H, Bell SM, Adu J, Toomes C, Carr IM, et al. Identification of microcephalin, a protein implicated in determining the size of the human brain. Am J Hum Genet 2002; 71: 136-42.
    • (2002) Am J Hum Genet , vol.71 , pp. 136-142
    • Jackson, A.P.1    Eastwood, H.2    Bell, S.M.3    Adu, J.4    Toomes, C.5    Carr, I.M.6
  • 2
    • 17644399484 scopus 로고    scopus 로고
    • Autosomal recessive primary microcephaly (MCPH): A review of clinical, molecular, and evolutionary findings
    • Woods CG, Bond J, Enard W. Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. Am J Hum Genet 2005; 76: 717-28.
    • (2005) Am J Hum Genet , vol.76 , pp. 717-728
    • Woods, C.G.1    Bond, J.2    Enard, W.3
  • 4
    • 79958276783 scopus 로고    scopus 로고
    • Autosomal Recessive Primary Microcephaly (MCPH): Clinical manifestations, genetic heterogeneity and mutation continuum
    • Mahmood S, Ahmad W, Hassan MJ. Autosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum. Orphanet J Rare Dis 2011; 6: 39.
    • (2011) Orphanet J Rare Dis , vol.6 , pp. 39
    • Mahmood, S.1    Ahmad, W.2    Hassan, M.J.3
  • 7
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16:1215.
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 8
    • 32444450454 scopus 로고    scopus 로고
    • SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly
    • Garshasbi M, Motazacker MM, Kahrizi K, Behjati F, Abedini SS, Nieh SE, et al. SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly. Hum Genet 2006; 118: 708-15.
    • (2006) Hum Genet , vol.118 , pp. 708-715
    • Garshasbi, M.1    Motazacker, M.M.2    Kahrizi, K.3    Behjati, F.4    Abedini, S.S.5    Nieh, S.E.6
  • 10
    • 0142147272 scopus 로고    scopus 로고
    • The BRCT domain is a phosphoprotein binding domain
    • Yu X, Chini CC, He M, Mer G, Chen J. The BRCT domain is a phosphoprotein binding domain. Science 2003; 302: 639-42.
    • (2003) Science , vol.302 , pp. 639-642
    • Yu, X.1    Chini, C.C.2    He, M.3    Mer, G.4    Chen, J.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.