Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions

Human Mutation

Volumn 17, Issue 3, 2001, Pages 183-190

  Laccone, F ^a,b   Huppke, P ^a   Hanefeld, F ^a   Meins, M ^a  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

^b Institute of Human Genetics   (Germany)

Author keywords

Germany; Hotspot; MECP2; Methyl CpG binding protein 2; Mutation spectrum; Rett syndrome; RTT; Secondary structure, RNA

Indexed keywords

GENE PRODUCT; METHYL CPG BINDING PROTEIN 2; UNCLASSIFIED DRUG;

ARTICLE; CLINICAL FEATURE; CPG ISLAND; FRAMESHIFT MUTATION; GENE DELETION; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GERMANY; HUMAN; INTRON; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NERVOUS SYSTEM DEVELOPMENT; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN SECONDARY STRUCTURE; RETT SYNDROME; SEQUENCE ANALYSIS; TRANSCRIPTION REGULATION; X CHROMOSOME DOMINANT INHERITANCE;

BASE SEQUENCE; BINDING SITES; CHROMOSOMAL PROTEINS, NON-HISTONE; DNA; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; GERMANY; HUMANS; METHYL-CPG-BINDING PROTEIN 2; MUTATION; REPRESSOR PROTEINS; RETT SYNDROME;

EID: 0035118802     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.3     Document Type: Article

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