Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations

Journal of Human Genetics

Volumn 56, Issue 3, 2011, Pages 183-187

  Hadzsiev, Kinga ^a   Polgar, Noemi ^a   Bene, Judit ^a   Komlosi, Katalin ^a   Karteszi, Judit ^a   Hollody, Katalin ^b   Kosztolanyi, Gyorgy ^a   Renieri, Alessandra ^c   Melegh, Bela ^a  

^a UNIVERSITY OF PÉCS   (Hungary)

^b UNIVERSITY OF PÉCS   (Hungary)

^c UNIVERSITY OF SIENA   (Italy)

Author keywords

CDKL5; FOXG1; MECP2; Rett syndrome

Indexed keywords

CYCLIN DEPENDENT KINASE; CYCLIN DEPENDENT KINASE LIKE 5; FORKHEAD BOX PROTEIN G1; FORKHEAD TRANSCRIPTION FACTOR; METHYL CPG BINDING PROTEIN 2; UNCLASSIFIED DRUG;

ARTICLE; CARBOXY TERMINAL SEQUENCE; CATALYSIS; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE INSERTION; GENETIC VARIABILITY; HUMAN; HUNGARY; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PATHOGENESIS; PHENOTYPE; PROTEIN DOMAIN; RETT SYNDROME; STOP CODON;

CHILD; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; HUMANS; HUNGARY; INFANT; INFANT, NEWBORN; MALE; METHYL-CPG-BINDING PROTEIN 2; MUTATION; NERVE TISSUE PROTEINS; PHENOTYPE; PROTEIN-SERINE-THREONINE KINASES; RETT SYNDROME;

EID: 79953183967     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1038/jhg.2010.156     Document Type: Article

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