Severe cystic fibrosis associated with a ΔF508/R347H + D979A compound heterozygous genotype

Clinical Genetics

Volumn 53, Issue 1, 1998, Pages 50-53

  Hojo, Satoko ^a   Fujita, Jiro ^a   Miyawaki, Hiroshi ^a   Obayashi, Yuka ^a   Takahara, Jiro ^a   Bartholomew, Dennis W ^b  

^a KAGAWA UNIVERSITY   (Japan)

^b Urology Service   (United States)

Author keywords

Cystic fibrosis; R347H and D979A; Rare mutations

Indexed keywords

ANTIBIOTIC AGENT; CIPROFLOXACIN; ENZYME; TRANSMEMBRANE CONDUCTANCE REGULATOR; VITAMIN;

ADULT; ARTICLE; CASE REPORT; CYSTIC FIBROSIS; EXON; FEMALE; GENOTYPE; GERMANY; HETEROZYGOTE; HUMAN; HUMAN CELL; JAPAN; LUNG ASPERGILLOSIS; MECONIUM ILEUS; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL;

EID: 0031929488     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1998.tb02581.x     Document Type: Article

References (12)

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