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Full registry entry

Patient Id

 UMHA0904

Inhibitors

 FAMILIAR

Mutation Type

 INSERTION

Gen

 FVIII

Mutation effect

 FRAMESHIFT

Region

 EXON

Exon inton number

 8

Affected Codon

 376-

Affected nucleotide

 1171-1184

Mutation AA

 FRAMESHIFT

Mutation Nuc

 1171-1184dupCGCTCAGTTGCCAA

Original-final codons

 1171-1184dupCGCTCAGTTGCCAA

Affected domain

 -

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 SEVERE

FactorC(%)

 1

FactorAg(%)

 -

Origin

 FAMILIAR

ID

 677

 

   
 

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