A patient with classic Rett syndrome with a novel mutation in MECP2 exon 1 [3]

Clinical Genetics

Volumn 70, Issue 6, 2006, Pages 530-531

  Chunshu, Y ^a   Endoh, K ^a   Soutome, M ^a   Kawamura, R ^b   Kubota, Takeo ^a,c  

^a UNIVERSITY OF YAMANASHI   (Japan)

^b Division of Pediatrics   (Japan)

^c NONE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

METHYL CPG BINDING PROTEIN 2; RNA;

AMINO TERMINAL SEQUENCE; ANAMNESIS; CASE REPORT; CHILDHOOD DISEASE; CHROMOSOME INACTIVATION; CLINICAL FEATURE; EXON; FEMALE; FRAMESHIFT MUTATION; GENE DISRUPTION; GENE SEQUENCE; GENETIC IDENTIFICATION; HUMAN; LETTER; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; RETT SYNDROME; RNA TRANSLATION; X CHROMOSOME;

BASE SEQUENCE; CHILD, PRESCHOOL; EXONS; FEMALE; HUMANS; JAPAN; METHYL-CPG-BINDING PROTEIN 2; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; RETT SYNDROME; SEQUENCE ANALYSIS, DNA;

EID: 33751006767     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2006.00712.x     Document Type: Letter

References (11)

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