Novel MLPA procedure using self-designed probes allows comprehensive analysis for CNVs of the genes involved in Hirschsprung disease

BMC Medical Genetics

Volumn 11, Issue 1, 2010, Pages

  Sánchez Mejías, Avencia ^a,b   Núñez Torres, Rocio ^a,b   Fernández, Raquel M ^a,b   Antiñolo, Guillermo ^a,b   Borrego, Salud ^a,b  

^a HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ENDOTHELIN RECEPTOR; ENDOTHELIN RECEPTOR B; NEURTURIN; PROTEIN GFR ALPHA 1; RECEPTOR PROTEIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR PHOX2B; UNCLASSIFIED DRUG;

ARTICLE; COMPUTER MODEL; CONTROLLED STUDY; COPY NUMBER VARIATION; EXON; FEMALE; GENE DELETION; GENETIC ASSOCIATION; GENETIC CODE; HIRSCHSPRUNG DISEASE; HUMAN; MAJOR CLINICAL STUDY; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PATHOGENESIS; RELIABILITY; TRANSLATION INITIATION; VALIDATION STUDY; DNA PROBE; GENETICS; NUCLEIC ACID AMPLIFICATION;

DNA COPY NUMBER VARIATIONS; DNA PROBES; FEMALE; HIRSCHSPRUNG DISEASE; HUMANS; MALE; NUCLEIC ACID AMPLIFICATION TECHNIQUES;

EID: 77951942018     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-11-71     Document Type: Article

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