메뉴 건너뛰기




Volumn 68, Issue 5, 2001, Pages 1093-1101

MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CONTROLLED STUDY; EXTRACHROMOSOMAL INHERITANCE; FAMILIAL DISEASE; FATHER; FEMALE; GENE DELETION; GENE FREQUENCY; GENE INSERTION; GENE MUTATION; GENETIC CONSERVATION; GENETIC LINKAGE; GENETIC POLYMORPHISM; HUMAN; INTRON; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NONSENSE MUTATION; PRIORITY JOURNAL; RETT SYNDROME; SEX RATIO; X CHROMOSOME LINKED DISORDER;

EID: 0035013739     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/320109     Document Type: Article
Times cited : (214)

References (31)
  • 11
    • 0027016289 scopus 로고
    • Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen: The mosaic parent exhibits phenotypic features of mild form of the disease
    • (1992) Hum Mutat , vol.1 , pp. 47-54
    • Edwards, M.J.1    Wenstrup, R.J.2    Beyers, P.H.3    Cohen, D.H.4
  • 14
    • 0021815213 scopus 로고
    • Rett's syndrome: Prevalence and impact on progressive severe mental retardation in girls
    • (1985) Acta Paediatr Scand , vol.74 , pp. 405-408
    • Hagberg, B.1
  • 27
    • 0030009791 scopus 로고    scopus 로고
    • High male:female ratio of germ-line mutations: An alternative explanation for postulated gestational lethality in males in X-linked dominant disorders
    • (1996) Am J Hum Genet , vol.58 , pp. 1364-1368
    • Thomas, G.H.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.