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Full registry entry

Patient Id

 UMHA0286

Inhibitors

  

Mutation Type

 INSERTION

Gen

 FVIII

Mutation effect

 FRAMESHIFT

Region

 EXON

Exon inton number

 9

Affected Codon

 429

Affected nucleotide

 1342-1343

Mutation AA

 FRAMESHIFT

Mutation Nuc

 1342-1343InsA

Original-final codons

 1bp (A)

Affected domain

 A2

Refrence

 -

AA change

 CANVI DE MARC DE LECTURA

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 SEVERE

FactorC(%)

 <1

FactorAg(%)

 -

Origin

  

ID

 265

 

   
 

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