Heterozygous variant at nucleotide position 875+11A>T in exon 6A cystic fibrosis transmembrane conductance regulator gene induces 852del22 mutation false-positivity by line probe assay

Fertility and Sterility

Volumn 95, Issue 3, 2011, Pages 1121.e1-1121.e4

  Miolo, GianMaria ^a   Crovatto, Marina ^a   Manno, Massimo ^a   Pivetta, Barbara ^a   Tessitori, Giovanni ^a   Picci, Luigi ^b  

^a Pordenone Hospital   (Italy)

^b UNIVERSITY OF PADOVA   (Italy)

Author keywords

852del22 mutation; CFTR gene; line probe assay

Indexed keywords

GENOMIC DNA; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADULT; ARTICLE; CASE REPORT; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DIAGNOSTIC ERROR; DNA EXTRACTION; EXON; FALSE POSITIVE RESULT; FERTILIZATION IN VITRO; GENE; GENE AMPLIFICATION; GENETIC COUNSELING; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOTE; HUMAN; INDEL MUTATION; LINE PROBE ASSAY; MALE; NUCLEOTIDE SEQUENCE; OLIGONUCLEOTIDE PROBE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEGREGATION ANALYSIS; SEMEN ANALYSIS; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 79951943087     PISSN: 00150282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.fertnstert.2010.09.042     Document Type: Article

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