Abstract:
:CGA----TGA (Arg----Term) transitions in the factor VIII gene causing severe haemophilia A were detected in two patients at codons 336 and 427 using a combination of oligonucleotide discrimination hybridization and DNA sequencing. Carrier detection analysis was then performed by polymerase chain reaction/direct sequencing of the appropriate region of the gene in female relatives of the probands.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Millar DS,Green PJ,Zoll B,Kakkar VV,Cooper DNdoi
10.1007/BF01213104subject
Has Abstractpub_date
1991-05-01 00:00:00pages
99-100issue
1eissn
0340-6717issn
1432-1203journal_volume
87pub_type
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