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Hum Mutat. 1996;8(1):77-8.

A 14-bp deletion (codon 554 del AAGgtaacagagtg) at exon 14/intron N junction of the coagulation factor XI gene disrupts splicing and causes severe factor XI deficiency.

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Department of Hematology, Chaim Sheba Medical Center, Israel.
[Indexed for MEDLINE]

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