Identification of three novel mutations in the CFTR gene, R117P, δD192, and 3121-1G→A in four french patients

Human Mutation

Volumn 11, Issue SUPPL 1, 1998, Pages

  Feldmann, Delphine ^a   Sardet, Anne ^a   Cougoureux, Emmanuel ^a   Plouvier, Elisabeth ^a   Fontaine, Jean Loup ^a   Tournier, Guy ^a   Aymard, Pierre ^a  

^a ARMAND TROUSSEAU HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CFTR PROTEIN, HUMAN; DNA; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHEMISTRY; CHILD; CYSTIC FIBROSIS; FEMALE; FRANCE; GENE DELETION; GENETICS; HUMAN; MALE; MUTATION; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRESCHOOL CHILD; ADULT; EXON; GENE AMPLIFICATION; GENE MUTATION; INTRON; NUCLEIC ACID BASE SUBSTITUTION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ADOLESCENT; AMINO ACID SUBSTITUTION; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; FRANCE; HUMANS; MALE; MUTATION; POINT MUTATION; SEQUENCE DELETION;

EID: 0031985207     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380110127     Document Type: Article

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