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Full registry entry

Patient Id

 UMHA0023

Inhibitors

 ?

Mutation Type

 DELETION

Gen

 FVIII

Mutation effect

 FRAMESHIFT

Region

 EXON

Exon inton number

 14

Affected Codon

 1539

Affected nucleotide

 4672-4675

Mutation AA

 FRAMESHIFT

Mutation Nuc

 4672-4675delAACA

Original-final codons

 del 4 (AACA)

Affected domain

 B

Refrence

 -

AA change

 CANVI DE MARC DE LECTURA

Diagnostic lab

 UDTM

Coagulopathy

 HA

Severity

 ?

FactorC(%)

 ?

FactorAg(%)

 -

Origin

 ?

ID

 229

 

   
 

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