KEGG   VARIANT: 1789v1
Entry
1789v1                      Variant                                
Name
DNMT3B mutation
Gene
DNMT3B  DNA methyltransferase 3 beta [KO:K17399]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602900
Network
nt06512  Chromosome cohesion and segregation
Disease
H00591  Facioscapulohumeral muscular dystrophy
H02308  Immunodeficiency-centromeric instability-facial anomalies syndrome
Reference
  Authors
Xu GL, Bestor TH, Bourc'his D, Hsieh CL, Tommerup N, Bugge M, Hulten M, Qu X, Russo JJ, Viegas-Pequignot E
  Title
Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene.
  Journal
Nature 402:187-91 (1999)
DOI:10.1038/46052
Reference
  Authors
van den Boogaard ML, Lemmers RJLF, Balog J, Wohlgemuth M, Auranen M, Mitsuhashi S, van der Vliet PJ, Straasheijm KR, van den Akker RFP, Kriek M, Laurense-Bik MEY, Raz V, van Ostaijen-Ten Dam MM, Hansson KBM, van der Kooi EL, Kiuru-Enari S, Udd B, van Tol MJD, Nishino I, Tawil R, Tapscott SJ, van Engelen BGM, van der Maarel SM
  Title
Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.
  Journal
Am J Hum Genet 98:1020-1029 (2016)
DOI:10.1016/j.ajhg.2016.03.013
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