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Full registry entry

Patient Id

 URHA327

Inhibitors

  

Mutation Type

 DELETION

Gen

 FVIII

Mutation effect

 FRAMESHIFT

Region

 EXON

Exon inton number

 19

Affected Codon

 2014

Affected nucleotide

 6099

Mutation AA

 FRAMESHIFT

Mutation Nuc

 6099delT

Original-final codons

 delT

Affected domain

 A3

Refrence

 -

AA change

 FRAMESHIFT

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 SEVERE

FactorC(%)

 ?

FactorAg(%)

 -

Origin

  

ID

 183

 

   
 

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