Molecular Data

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		Patient ID	Type Of Mutation	Genic Region	Nucleotide change	Nucleotide	Aminoacid change	Codon	Domain	Ref.	Mutation comments
Clinical Data	ISTH mutations	2	PSSM	I45	7730-1G>C	-	-	-	-	Corrales et al. 2011	In homozygosis
Clinical Data	ISTH mutations	2	PSSM	I29	5170+10C>T	-	-	-	-	Corrales et al. 2011	Also described as a polymorphism in the ISTH database. Mutation in homozygosis.