 | | NETWORK: N01809 | |
| Entry |
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| Name |
Mutation-caused epigenetic silencing of MMACHC
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| Definition |
PRDX1* =| MMACHC |
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| Expanded |
5052v1 =| 25974 |
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| Class |
nt06538 Cobalamin transport and metabolism
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| Type |
Variant
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| Pathway |
| hsa04980 Cobalamin transport and metabolism | |
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| Disease |
| H02221 Methylmalonic aciduria and homocystinuria | |
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| Gene |
| 5052 | PRDX1; peroxiredoxin 1 |
| 25974 | MMACHC; metabolism of cobalamin associated C |
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| Variant |
5052v1 (PRDX1*) PRDX1 mutation
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| Reference |
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| Authors |
Gueant JL, Chery C, Oussalah A, Nadaf J, Coelho D, Josse T, Flayac J, Robert A, Koscinski I, Gastin I, Filhine-Tresarrieu P, Pupavac M, Brebner A, Watkins D, Pastinen T, Montpetit A, Hariri F, Tregouet D, Raby BA, Chung WK, Morange PE, Froese DS, Baumgartner MR, Benoist JF, Ficicioglu C, Marchand V, Motorin Y, Bonnemains C, Feillet F, Majewski J, Rosenblatt DS |
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| Title |
Publisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients. |
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| Journal |
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| Reference |
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| Authors |
Gueant JL, Chery C, Oussalah A, Nadaf J, Coelho D, Josse T, Flayac J, Robert A, Koscinski I, Gastin I, Filhine-Tresarrieu P, Pupavac M, Brebner A, Watkins D, Pastinen T, Montpetit A, Hariri F, Tregouet D, Raby BA, Chung WK, Morange PE, Froese DS, Baumgartner MR, Benoist JF, Ficicioglu C, Marchand V, Motorin Y, Bonnemains C, Feillet F, Majewski J, Rosenblatt DS |
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| Title |
APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients. |
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| Journal |
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| LinkDB |
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