Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females

Journal of Molecular Medicine

Volumn 78, Issue 11, 2000, Pages 648-655

  Vacca, Marcella ^a   Filippini, Francesco ^b   Budillon, Alberta ^a   Rossi, Valeria ^b   Mercadante, Grazia ^a   Manzati, Elisa ^c   Gualandi, Francesca ^c   Bigoni, Stefania ^c   Trabanelli, Cecilia ^c   Pini, Giorgio ^d   Calzolari, Elisa ^c   Ferlini, Alessandra ^c   Meloni, Ilaria ^f   Hayek, Giuseppe ^e   Zappella, Michele ^e   Renieri, Alessandra ^f   D'Urso, Michele ^a   D'Esposito, Maurizio ^a   MacDonald, Fiona ^g,j   Kerr, Alison ^h   Dhanjal, Seema ^g,i   Hultén, Maj ^g,i   more..

^a INSTITUTE OF GENETICS AND BIOPHYSICS ADRIANO BUZZATI TRAVERSO   (Italy)

^b UNIVERSITY OF PADOVA   (Italy)

^c UNIVERSITY OF FERRARA   (Italy)

^d Servizio di Neuropsichiatria Infantile UO   (Italy)

^e UNIVERSITY HOSPITAL OF SIENA   (Italy)

^f UNIVERSITY OF SIENA   (Italy)

^g UNIVERSITY HOSPITALS BIRMINGHAM NHS FOUNDATION TRUST   (United Kingdom)

^h UNIVERSITY OF GLASGOW   (United Kingdom)

ⁱ UNIVERSITY OF WARWICK   (United Kingdom)

^j BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

more..

Author keywords

Bioinformatic analysis; MECP2 mutation; Rett syndrome; Review; X chromosome

Indexed keywords

ARTICLE; CAUCASIAN; DISEASE ASSOCIATION; DNA DETERMINATION; FEMALE; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; MUTATION; RETT SYNDROME; SEX DIFFERENCE; TRANSCRIPTION REGULATION; X CHROMOSOME LINKED DISORDER;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD, PRESCHOOL; CHROMOSOMAL PROTEINS, NON-HISTONE; CONSERVED SEQUENCE; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; EVOLUTION, MOLECULAR; EXONS; FEMALE; FRAMESHIFT MUTATION; GREAT BRITAIN; HETEROZYGOTE; HUMANS; INFANT; INTRONS; ITALY; METHYL-CPG-BINDING PROTEIN 2; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN STRUCTURE, TERTIARY; REPRESSOR PROTEINS; RETT SYNDROME; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 0004242093     PISSN: 09462716     EISSN: None     Source Type: Journal    
DOI: 10.1007/s001090000155     Document Type: Article

References (25)

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