| Entry |
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|---|
| Name |
|
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| Type |
Loss of function
|
|---|
| Gene |
HADHB trifunctional enzyme subunit beta, mitochondrial isoform 1 precursor [KO: K07509]
|
|---|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
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| Variation |
|
|---|
| Network |
nt06020 beta-Oxidation in mitochondria |
|---|
| Disease |
| H01352 | Mitochondrial trifunctional protein deficiency |
|
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| Reference |
|
|---|
| Authors |
Brackett JC, Sims HF, Rinaldo P, Shapiro S, Powell CK, Bennett MJ, Strauss AW |
|---|
| Title |
Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency. |
|---|
| Journal |
|
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| Reference |
|
|---|
| Authors |
Park HD, Kim SR, Ki CS, Lee SY, Chang YS, Jin DK, Park WS |
|---|
| Title |
Two novel HADHB gene mutations in a Korean patient with mitochondrial trifunctional protein deficiency. |
|---|
| Journal |
Ann Clin Lab Sci 39:399-404 (2009) |
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| LinkDB |
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