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- W76875360 abstract "A partial gene deletion of about 1700 to 2000 bases spanning exon 3 and part of IVS-3 was identified in one patient with severe haemophilia A. Extensive DNA analysis of his family members revealed that the mother of the proband is a somatic mosaic for an abnormal factor VIII gene, because the defective gene could be identified in a considerable fraction of the leucocytes as well as of the cultured fibroblasts of the mother. This observation is important in estimating the recurrence risk in families of sporadic cases." @default.
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- W76875360 date "1988-02-01" @default.
- W76875360 modified "2023-09-26" @default.
- W76875360 title "A somatic mosaic for haemophilia A detected at the DNA level." @default.
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