A novel double deletion underscores the importance of characterizing end points of the CFTR large rearrangements

European Journal of Human Genetics

Volumn 17, Issue 12, 2009, Pages 1683-1687

  Taulan, Magali ^a,b,c   Guittard, Caroline ^b,c   Theze, Corinne ^b,c   Claustres, Mireille ^a,b,c   des Georges, Marie ^b,c  

^a UNIV MONTPELLIER   (France)

^b UNIVERSITÉ DE MONTPELLIER   (France)

^c HÔPITAL ARNAUD DE VILLENEUVE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; CYSTIC FIBROSIS; EXON; GENE DELETION; GENE DUPLICATION; GENE EXPRESSION; GENE FUNCTION; GENE MAPPING; GENE MUTATION; GENE REARRANGEMENT; GENE REPLICATION; GENE SEQUENCE; HUMAN; INTRON; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

BASE SEQUENCE; CHROMOSOME ABERRATIONS; CHROMOSOME BREAKPOINTS; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; EXONS; FEMALE; GENE REARRANGEMENT; HUMANS; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; REPETITIVE SEQUENCES, NUCLEIC ACID; REPRODUCIBILITY OF RESULTS; SEQUENCE DELETION;

EID: 70549104651     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2009.73     Document Type: Article

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