Large deletions in the CFTR gene: Clinics and genetics in Swiss patients with CF

Clinical Genetics

Volumn 72, Issue 1, 2007, Pages 30-38

  Schneider, M ^a   Hirt, C ^a   Casaulta, C ^a   Barben, J ^b   Spinas, R ^c   Buhlmann U ^d   Spalinger, J ^e   Schwizer, B ^f   Chevalier Porst, F ^g   Gallati, Sabina ^a  

^a UNIVERSITY OF BERN   (Switzerland)

^b Paediatric Emergency Medicine   (Switzerland)

^c UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^d TRIEMLI HOSPITAL   (Switzerland)

^e CHILDREN S HOSPITAL   (Switzerland)

^f LUZERNER KANTONSSPITAL   (Switzerland)

^g HÔPITAL DEBROUSSE   (France)

Author keywords

CFTdele2 9; Cystic fibrosis; Hot spot region Ex17b; Large deletion; MPLA; Quatitative real time PCR

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADULT; ALLELE; ARTICLE; CAUCASIAN; CLINICAL ARTICLE; CONTROLLED STUDY; CYSTIC FIBROSIS; EXON; FEMALE; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENE NUMBER; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INTERMETHOD COMPARISON; MEDICAL RECORD; MOLECULAR GENETICS; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION;

ALLELES; BASE SEQUENCE; CASE-CONTROL STUDIES; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA PRIMERS; FEMALE; GENE FREQUENCY; GENETIC SCREENING; GENOTYPE; HUMANS; MALE; PHENOTYPE; POINT MUTATION; SEQUENCE DELETION; SWITZERLAND;

EID: 34347346133     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2007.00820.x     Document Type: Article

References (10)

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