Functional and molecular characterization of inherited platelet disorders in the Iberian Peninsula: results from a collaborative study

Table 3 Molecular diagnosis of patients with Glanzmann Thrombasthenia

Patients with molecular diagnosis		Gene	Inheritance	Mutation	Reference
GT-1	GT II	ITGB3	Compound Heterozygous	p.Met124Val	[30]
GT-1	GT II	ITGB3	Compound Heterozygous	c.774-775delTG	new
GT-2	GT I	ITGA2B	Compound Heterozygous	p.Leu183Pro	[26]
GT-2	GT I	ITGA2B	Compound Heterozygous	c.2473_2481delinsTCACCTGGTC	new
GT-3	GT II	ITGA2B	Homozygous	p.Cys674Arg	[27]
GT-4	GT I	ITGB3	Homozygous	p.Tyr190Cys	new
GT-5	GT I	ITGA2B	Compound Heterozygous	p.Glu507stop	new
GT-5	GT I	ITGA2B	Compound Heterozygous	c. 2637delC	new
GT-6	GT II	ITGA2B	Compound Heterozygous	p.Val951Met	[31]
				p.Ala958Thr	[31]
				p.Glu507stop	new
GT-7	GT II	ITGB3	Homozygous	p.Met118Arg	[32]
GT-8	GT I	ITGA2B	Homozygous	c.2965delG	new
GT-9	GT I	ITGA2B	Homozygous	c.692insT	[28]
GT-10	GT I	ITGA2B	Homozygous	c.1599delAT	new
GT-11	GT Variant	ITGB3	Compound Heterozygous	p.Tyr190Cys	new
GT-11	GT Variant	ITGB3	Compound Heterozygous	p.Leu196Pro	[29]
GT-12	GT I	ITGB3	No mutation found	-	-
GT-13	GT I	ITGA2B	Homozygous	p.Trp51Stop	new

ISSN: 1750-1172