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Full registry entry

Patient Id

 UMHA0194

Inhibitors

 FAMILIAR

Mutation Type

 INDEL

Gen

 FVIII

Mutation effect

 FRAMESHIFT

Region

 EXON

Exon inton number

 13

Affected Codon

 622

Affected nucleotide

 1923-1924

Mutation AA

 FRAMESHIFT

Mutation Nuc

 1923-1924delTGinsA

Original-final codons

 2 (TG) ins A

Affected domain

 A2

Refrence

 -

AA change

 CANVI DE MARC DE LECTURA

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 SEVERE

FactorC(%)

 <1

FactorAg(%)

 -

Origin

 FAMILIAR

ID

 281

 

   
 

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