This mutation was detected by temporal temperature gel electrophoresis (TTGE). The mutation was identified with DNA sequencing. It was found in a Hispanic CF patient.
Contributors
Wang J,
Wong L-J
1999-07-13
Institute
Institute for Molecular and Human Genetics
Georgetown University Medical
Center
Submitted Phenotype Details
The mutation was identified in a female patient (20 y) diagnosed with CF at 6 months. She is PI, has sweat chloride 110 mmol/l and FEV1 at age 18 was 20%. She had PA&Alcaligenes xyloxidans&Asp. fumigatus colonization. Delta F508 was on the other allele. (pers.corr. Alper)
Reference
Wang & Wong 1999
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The Database was last updated at Apr 25, 2011
