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Full registy entry

Patient Id

 URHB075

Inhibitors

 FAMILIAR

Mutation Type

 SUSTITUTION

Gen

 FIX

Mutation effect

 MISSENSE

Region

 EXON

Exon inton number

 8

Affected Codon

 387

Affected nucleotide

 31281

Mutation AA

 E387A

Mutation Nuc

 31281A>C

Original-final codons

 GAA>GCA

Affected domain

 -

Refrence

 -

AA change

 Glu>Ala

Diagnostic lab

 UDTM

Coagulopathy

 HB

Severity

 MODERATE

FactorC(%)

 ?

FactorAg(%)

 -

Origin

 FAMILIAR

ID

 28

 

   
 

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