Rett and ICF syndromes: Methylation moves into medicine

Journal of Biosciences

Volumn 25, Issue 3, 2000, Pages 213-214

  Kumar, A ^a  

^a INDIAN INSTITUTE OF SCIENCE   (India)

Author keywords

[No Author keywords available]

Indexed keywords

3' UNTRANSLATED REGION; AMINO ACID SEQUENCE; ANIMAL CELL; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CENTROMERE; CHROMOSOME 1; CHROMOSOME 16; CHROMOSOME 9; CLINICAL FEATURE; DNA METHYLATION; EXON; FACE MALFORMATION; FEMALE; GENE LOCUS; GENE MUTATION; GENE SILENCING; HUMAN; IMMUNE DEFICIENCY; LYMPHOCYTE; MISSENSE MUTATION; MOUSE; NONHUMAN; RETT SYNDROME; SEQUENCE ANALYSIS; SYMPTOM; X CHROMOSOME DOMINANT DISORDER;

ANIMALIA;

EID: 0033826769     PISSN: 02505991     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02703925     Document Type: Article

References (4)

1. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
2. Long-range sequence analysis of the MECP2 gene in Rett syndrome patients: Correlation of disease severity with mutation type and location
3. Whole-genome methylation scan in ICF syndrome: Hypomethylation of non-satellite DNA repeats D4Z4 and NBL2
4. Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene