Homozygosity for L997F in a child with normal clinical and chloride secretory phenotype provides evidence that this cystic fibrosis transmembrane conductance regulator mutation does not cause cystic fibrosis [2]

Clinical Genetics

Volumn 67, Issue 6, 2005, Pages 529-531

  Derichs, Nico ^a   Schuster, A ^b   Grund, I ^b   Ernsting, A ^b   Stolpe, C ^b   Kortge Jung S ^b   Gallati, S ^b   Stuhrmann, M ^b   Kozlowski, P ^b   Ballmann, M ^b  

^a HANNOVER MEDICAL SCHOOL   (Germany)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

CHLORIDE; GENE PRODUCT; GENOMIC DNA; PROTEIN L997F; TRANSMEMBRANE CONDUCTANCE REGULATOR; UNCLASSIFIED DRUG;

CHILD; CONSANGUINITY; CYSTIC FIBROSIS; DIAGNOSTIC TEST; DNA EXTRACTION; DNA POLYMORPHISM; DNA SEQUENCE; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC SCREENING; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LETTER; MISSENSE MUTATION; PATHOPHYSIOLOGY; PEDIGREE ANALYSIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

CHILD, PRESCHOOL; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FEMALE; HOMOZYGOTE; HUMANS; MALE; MUTATION; PEDIGREE; PHENOTYPE;

EID: 21044432497     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2005.00437.x     Document Type: Letter

References (17)

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