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Full registry entry

Patient Id

 URHA067

Inhibitors

 SPORADIC

Mutation Type

 DELETION

Gen

 FVIII

Mutation effect

 FRAMESHIFT

Region

 EXON

Exon inton number

 25

Affected Codon

 -

Affected nucleotide

 -

Mutation AA

 -

Mutation Nuc

 -

Original-final codons

 -

Affected domain

 -

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 SEVERE

FactorC(%)

 0,8

FactorAg(%)

 -

Origin

 SPORADIC

ID

 112

 

   
 

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