Germ-line deletion in DICER1 revealed by a novel MLPA assay using synthetic oligonucleotides

European Journal of Human Genetics

Volumn 22, Issue 4, 2014, Pages 564-567

  Sabbaghian, Nelly ^a,b   Srivastava, Archana ^a,b   Hamel, Nancy ^a,c   Plourde, François ^a,b   Gajtko Metera, Malgorzata ^d   Niedziela, Marek ^e   Foulkes, William D ^a,b,c  

^a MCGILL UNIVERSITY   (Canada)

^b MCGILL UNIVERSITY   (Canada)

^c MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^d CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^e POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

Author keywords

DICER1; miRNA; Multinodular goiter; Multiplex Ligation based Probe Amplification (MLPA); Probe mixes; Sertoli Leydig cell tumor (SLCT); Synthetic oligos

Indexed keywords

COMPLEMENTARY DNA;

ANDROBLASTOMA; ARTICLE; BLASTOMA; DICER1 GENE; GENE; GENE MUTATION; GERM LINE; HUMAN; KIDNEY TUMOR; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PRIORITY JOURNAL; SEX CORD TUMOR;

ALLELES; CHILD; DEAD-BOX RNA HELICASES; EXONS; FEMALE; FRAMESHIFT MUTATION; GENE REARRANGEMENT; GERM CELLS; GERM-LINE MUTATION; GOITER, NODULAR; HUMANS; INTRONS; MALE; MULTIPLEX POLYMERASE CHAIN REACTION; OLIGONUCLEOTIDES; OVARIAN NEOPLASMS; PEDIGREE; RIBONUCLEASE III; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION;

EID: 84896549229     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.215     Document Type: Article

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