Article
Factor XIII deficiency due to a Leu660Pro mutation in the factor XIII subunit-a gene in three unrelated Palestinian Arab families.
Thrombosis and haemostasis - 1 Jun 1997
Inbal A, Yee V C, Kornbrot N, Zivelin A, Brenner B, Seligsohn U
Abstract excerpt
In this report we describe the molecular basis of FXIII a-subunit deficiency in three unrelated Palestinian Arab families. In three patients representing each family two substitutions were identified in exon 14 on both alleles: C to G change resulting in a Gln651Glu substitution (a previously described polymorphism) and a T to C transition causing Leu660Pro substitution. The latter is a new mutation which creates...
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