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Full registry entry

Patient Id

 UMHA0534

Inhibitors

 FAMILIAR

Mutation Type

 SUSTITUTION

Gen

 FVIII

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 1

Affected Codon

 3

Affected nucleotide

 65

Mutation AA

 R3I

Mutation Nuc

 65G>T

Original-final codons

 AGA>ATA

Affected domain

 A1

Refrence

 -

AA change

  

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 MILD

FactorC(%)

 16

FactorAg(%)

 -

Origin

 FAMILIAR

ID

 361

 

   
 

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