Large Deletions of the MECP2 Gene Detected by Gene Dosage Analysis in Patients with Rett Syndrome

Human Mutation

Volumn 23, Issue 3, 2004, Pages 234-244

  Laccone, Franco ^a   Jünemann, Ivonne ^a   Whatley, Sharon ^b   Morgan, Rhian ^b   Butler, Rachel ^b   Huppke, Peter ^a   Ravine, David ^c  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

^b UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^c UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

Author keywords

Alu; Chi sequence; Large deletions; MECP2; qPCR; Rett syndrome

Indexed keywords

DNA; MESSENGER RNA;

ARTICLE; CONTROLLED STUDY; DELETION PRONE REGION; FEMALE; GENE; GENE DELETION; GENE DOSAGE; GENE MUTATION; GENOME; HUMAN; MAJOR CLINICAL STUDY; MECP2 GENE; MENTAL RETARDATION MALFORMATION SYNDROME; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RETT SYNDROME; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SOUTHERN BLOTTING;

BASE SEQUENCE; CHROMOSOMAL PROTEINS, NON-HISTONE; CHROMOSOME BREAKAGE; CPG ISLANDS; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; GENE DELETION; GENE DOSAGE; HUMANS; METHYL-CPG-BINDING PROTEIN 2; MOLECULAR SEQUENCE DATA; REPRESSOR PROTEINS; RETT SYNDROME;

EID: 1542514789     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20004     Document Type: Article

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