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Full registry entry

Patient Id

 URHA107

Inhibitors

  

Mutation Type

 DELETION

Gen

 FVIII

Mutation effect

 FRAMESHIFT

Region

 EXON

Exon inton number

 2

Affected Codon

 50-51-52

Affected nucleotide

 -

Mutation AA

 FRAMESHIFT

Mutation Nuc

 209-212delTTGT

Original-final codons

  4 (TGTT o GTTT o TTTG o TTGT)

Affected domain

 ?

Refrence

 -

AA change

 FRAMESHIFT

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 SEVERE

FactorC(%)

 <1

FactorAg(%)

 -

Origin

  

ID

 126

 

   
 

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