The first missense mutation causing Rett syndrome specifically affecting the MeCP2-e1 isoform

Neurogenetics

Volumn 10, Issue 2, 2009, Pages 127-133

  Fichou, Yann ^a,b   Nectoux, Juliette ^a,b   Bahi Buisson, Nadia ^c   Rosas Vargas, Haydeé ^a,b   Girard, Benoit ^d   Chelly, Jamel ^a,b,d   Bienvenu, Thierry ^a  

^a INSTITUT COCHIN   (France)

^b INSERM   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d université Paris Cité   (France)

Author keywords

Isoforms; MECP2; Missense mutation; Rett syndrome

Indexed keywords

ALANINE; METHYL CPG BINDING PROTEIN 2; METHYL CPG BINDING PROTEIN 2 E1; POLYALANINE; UNCLASSIFIED DRUG;

AMINO TERMINAL SEQUENCE; ANIMAL CELL; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; COGNITIVE DEFECT; DEVELOPMENTAL DISORDER; EPILEPSY; FEMALE; FIBROBLAST; GENE; HUMAN; HUMAN CELL; LANGUAGE DISABILITY; MECP2 GENE; MICROCEPHALY; MISSENSE MUTATION; NONHUMAN; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN LOCALIZATION; RETT SYNDROME;

5' UNTRANSLATED REGIONS; AMINO ACID SEQUENCE; ANIMALS; CELL LINE; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; METHYL-CPG-BINDING PROTEIN 2; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NUCLEIC ACID CONFORMATION; PREGNANCY; PROTEIN ISOFORMS; RETT SYNDROME; RNA, MESSENGER; SEQUENCE ALIGNMENT;

EUKARYOTA;

EID: 64149104752     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-008-0161-1     Document Type: Article

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