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Full registry entry

Patient Id

 UMHA0069

Inhibitors

  

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 SPLICING ERROR

Region

 INTRON

Exon inton number

 4

Affected Codon

 -

Affected nucleotide

 -

Mutation AA

 SPLICING ERROR

Mutation Nuc

 IVS4-11T>G

Original-final codons

 tctttttcag/GG>gctttttcag/GG

Affected domain

 -

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 7

FactorAg(%)

 -

Origin

  

ID

 48

 

   
 

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