Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients

Journal of Human Genetics

Volumn 58, Issue 7, 2013, Pages 455-460

  Nitta, Hirohisa ^a   Unoki, Motoko ^a   Ichiyanagi, Kenji ^a   Kosho, Tomoki ^b   Shigemura, Tomonari ^b   Takahashi, Hiroshi ^c   Velasco, Guillaume ^d   Francastel, Claire ^d   Picard, Capucine ^e   Kubota, Takeo ^f   Sasaki, Hiroyuki ^a  

^a KYUSHU UNIVERSITY   (Japan)

^b SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c NATIONAL HOSPITAL ORGANIZATION   (Japan)

^d UNIVERSITÉ PARIS DESCARTES   (France)

^e HÔPITAL NECKER ENFANTS MALADES   (France)

^f UNIVERSITY OF YAMANASHI   (Japan)

Author keywords

satellite; Centromere; DNA methylation; DNMT3B; ICF syndrome; Pericentromere; Satellite 2; ZBTB24

Indexed keywords

ENHANCED GREEN FLUORESCENT PROTEIN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; DNA METHYLATION; FEMALE; GENE; HETEROCHROMATIN; HUMAN; IMMUNODEFICIENCY CENTROMERIC INSTABILITY AND FACIAL ANOMALY SYNDROME TYPE 2; IMMUNOFLUORESCENCE; JAPANESE; MALE; MISSENSE MUTATION; NONSENSE MUTATION; PRESCHOOL CHILD; RARE DISEASE; WILD TYPE; ZBTB24 GENE; ZINC FINGER MOTIF;

ADOLESCENT; ADULT; AFRICAN CONTINENTAL ANCESTRY GROUP; ANIMALS; ASIAN CONTINENTAL ANCESTRY GROUP; CELL LINE; CENTROMERE; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 16; CLONING, MOLECULAR; DNA METHYLATION; FACE; FEMALE; GENOMICS; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; MALE; MICE; MUTATION; NIH 3T3 CELLS; RECOMBINANT FUSION PROTEINS; REPRESSOR PROTEINS; SEQUENCE ANALYSIS; ZINC FINGERS;

EID: 84880896632     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2013.56     Document Type: Article

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