MLPA as first screening method for the detection of microduplications and microdeletions in patients with X-linked mental retardation

Genetics in Medicine

Volumn 9, Issue 2, 2007, Pages 117-122

  Madrigal, Irene ^a,b   Rodríguez Revenga, Laia ^a,b   Badenas, Celia ^a,b   Sánchez, Aurora ^a,b   Martinez, Francisco ^c   Fernandez, Isabel ^d   Fernández Buriel, Miguel ^e   Mila M ^a,b  

^a HOSPITAL CLÍNIC   (Spain)

^b INSTITUT D INVESTIGACIONS BIOMÈDIQUES AUGUST PI I SUNYER IDIBAPS   (Spain)

^c HOSPITAL UNIVERSITARIO LA FE   (Spain)

^d UNIVERSITY OF VALLADOLID   (Spain)

^e Hospital de Merida   (Spain)

Author keywords

Microdeletions; Microduplications; MLPA; X linked mental retardation

Indexed keywords

ARHGEF6 GENE; ARTICLE; CONTROLLED STUDY; FEMALE; GDI1 GENE; GENE; GENE AMPLIFICATION; GENE DELETION; GENE DUPLICATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MULTIPLEX LIGATION PROBE AMPLIFICATION; OPHN1 GENE; RPS6KA3 GENE; SCREENING; X CHROMOSOME ABERRATION; X LINKED MENTAL RETARDATION;

CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, X; DNA PRIMERS; DNA PROBES; GENE DUPLICATION; GENETIC SCREENING; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MENTAL RETARDATION, X-LINKED; NUCLEIC ACID AMPLIFICATION TECHNIQUES; PEDIGREE; SEQUENCE DELETION;

EID: 33847050525     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e318031206e     Document Type: Article

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