Abstract:
:A total of 12 mutations associated with acute intermittent porphyria (AIP) have been detected in the porphobilinogen deaminase gene in Swedish AIP families. Three of them are newly discovered and unique to the Swedish population: a splice mutation in intron 6 (int6+1), a missense mutation in exon 11 (Gly216Asp) and a TG deletion in exon 14.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Lundin G,Lee JS,Thunell S,Anvret Mdoi
10.1007/s004390050466subject
Has Abstractpub_date
1997-07-01 00:00:00pages
63-6issue
1eissn
0340-6717issn
1432-1203journal_volume
100pub_type
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