MFMD

Search

Browse the database

By Disease
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]

By Gene
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Last update

21/6/2017

Phenotype: Bernard-Soulier syndrome, type B

OMIM: 231200
Inheritance: Autosomal recessive
Classification: Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials

GP1BB || c.143C>A

Gene/Locus:	GP1BB
Dna Change:	c.143C>A
Protein Change:	p.Ser48X
Mutation Type:	Substitution
Mutation Effect:	Nonsense
Location:	exon 2
Transcript:	NM_000407.4

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Tunisia	NA	NA	3 patients /3 unrelated families	NA	HadjKacem B et al., 2010HadjKacem B, Elleuch H, Trigui R, Gargouri J, Gargouri AF, . The same genetic defect in three Tunisian families with Bernard Soulier syndrome: a probable founder Stop mutation in GPIbβ.. Ann. Hematol.. 2010; 89(1):75-81

References

HadjKacem B, Elleuch H, Trigui R, Gargouri J, Gargouri AF, The same genetic defect in three Tunisian families with Bernard Soulier syndrome: a probable founder Stop mutation in GPIbβ.Ann. Hematol.. 2010; 89(1):75-81

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Phenotype: Bernard-Soulier syndrome, type B

References