Characterization of a recurrent novel large duplication in the cystic fibrosis transmembrane conductance regulator gene

Journal of Molecular Diagnostics

Volumn 9, Issue 4, 2007, Pages 556-560

  Hantash, Feras M ^a   Redman, Joy B ^a   Goos, Dana ^a   Kammesheidt, Anja ^b   McGinniss, Matthew J ^a   Sun, Weimin ^a   Strom, Charles M ^a  

^a QUEST DIAGNOSTICS NICHOLS INSTITUTE   (United States)

^b AMBRY GENETICS   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADULT; ALLELE; ARTICLE; CASE REPORT; CAUCASIAN; CYSTIC FIBROSIS; DISEASE SEVERITY; DNA EXTRACTION; DNA SEQUENCE; EXON; FEMALE; GENE DUPLICATION; GENE MUTATION; HAPLOTYPE; HUMAN; INFANT; INHERITANCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PREDICTION; PROTEIN DOMAIN;

EID: 34548784927     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.2353/jmoldx.2007.060141     Document Type: Article

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