Abstract:
:We tested 190 chromosomes from Dutch cystic fibrosis (CF) patients and carriers for the presence or absence of the major CF mutation delta F508. This mutation was found on 77% of the Dutch CF chromosomes. We observed a significant difference in the distribution of the ages at diagnosis between homozygotes for delta F508 and the other patients. delta F508 homozygotes tend to be identified as patients at neonatal or infantile age. The age at diagnosis of patients with at least one unknown allele, on the other hand, ranged between neonatal and young adult age.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Halley DJ,Veeze HJ,Sandkuyl LA,Wesby-van Swaay E,van Damme NH,Deelen WH,Witte JE,Niermeijer MFdoi
10.1007/BF02428281subject
Has Abstractpub_date
1990-09-01 00:00:00pages
407-8issue
4eissn
0340-6717issn
1432-1203journal_volume
85pub_type
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