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Molecular and Pathophigiological analysis of NBAS mutations detected in a case of fever-triggered recurrent acute liver failure

Not Applicable
Conditions
BAS mutation based disease
Registration Number
JPRN-UMIN000036860
Lead Sponsor
Kawasaki Medical School
Brief Summary

Not available

Detailed Description

Not available

Recruitment & Eligibility

Status
Complete: follow-up complete
Sex
All
Target Recruitment
4
Inclusion Criteria

Not provided

Exclusion Criteria

other than above described

Study & Design

Study Type
Interventional
Study Design
Not specified
Primary Outcome Measures
NameTimeMethod
Detection of NBAS gene mutation and pathogenesis of mutant NBAS protein
Secondary Outcome Measures
NameTimeMethod
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