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Full registry entry

Patient Id

 URHA060

Inhibitors

 FAMILIAR

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 SPLICING ERROR

Region

 INTRON

Exon inton number

 16

Affected Codon

 -

Affected nucleotide

 -

Mutation AA

 -

Mutation Nuc

 IVS16-1G>A

Original-final codons

 tag/GA > taa/GA

Affected domain

 -

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 SEVERE

FactorC(%)

 <1

FactorAg(%)

 -

Origin

 FAMILIAR

ID

 143

 

   
 

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