A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients
Inborn errors of vitamin B12 metabolism of the cblC class are caused by mutations in the MMACHC gene. Here, Guéant et al. report epi-cblC, a class of cblC in which patients are compound heterozygous for a genetic mutation and a secondary epimutation at the MMACHC locus.
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Nature Portfolio
2018
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oai:doaj.org-article:cbd6be2fd8e245cb84a21aa02a0296512021-12-02T16:49:19ZA PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients10.1038/s41467-017-02306-52041-1723https://doaj.org/article/cbd6be2fd8e245cb84a21aa02a0296512018-01-01T00:00:00Zhttps://doi.org/10.1038/s41467-017-02306-5https://doaj.org/toc/2041-1723Inborn errors of vitamin B12 metabolism of the cblC class are caused by mutations in the MMACHC gene. Here, Guéant et al. report epi-cblC, a class of cblC in which patients are compound heterozygous for a genetic mutation and a secondary epimutation at the MMACHC locus.Jean-Louis GuéantCéline ChéryAbderrahim OussalahJavad NadafDavid CoelhoThomas JosseJustine FlayacAurélie RobertIsabelle KoscinskiIsabelle GastinPierre Filhine-TresarrieuMihaela PupavacAlison BrebnerDavid WatkinsTomi PastinenAlexandre MontpetitFadi HaririDavid TregouëtBenjamin A RabyWendy K. ChungPierre-Emmanuel MorangeD. Sean FroeseMatthias R. BaumgartnerJean-François BenoistCan FiciciogluVirginie MarchandYuri MotorinChrystèle BonnemainsFrançois FeilletJacek MajewskiDavid S. RosenblattNature PortfolioarticleScienceQENNature Communications, Vol 9, Iss 1, Pp 1-12 (2018) |
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DOAJ |
| collection |
DOAJ |
| language |
EN |
| topic |
Science Q |
| spellingShingle |
Science Q Jean-Louis Guéant Céline Chéry Abderrahim Oussalah Javad Nadaf David Coelho Thomas Josse Justine Flayac Aurélie Robert Isabelle Koscinski Isabelle Gastin Pierre Filhine-Tresarrieu Mihaela Pupavac Alison Brebner David Watkins Tomi Pastinen Alexandre Montpetit Fadi Hariri David Tregouët Benjamin A Raby Wendy K. Chung Pierre-Emmanuel Morange D. Sean Froese Matthias R. Baumgartner Jean-François Benoist Can Ficicioglu Virginie Marchand Yuri Motorin Chrystèle Bonnemains François Feillet Jacek Majewski David S. Rosenblatt A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients |
| description |
Inborn errors of vitamin B12 metabolism of the cblC class are caused by mutations in the MMACHC gene. Here, Guéant et al. report epi-cblC, a class of cblC in which patients are compound heterozygous for a genetic mutation and a secondary epimutation at the MMACHC locus. |
| format |
article |
| author |
Jean-Louis Guéant Céline Chéry Abderrahim Oussalah Javad Nadaf David Coelho Thomas Josse Justine Flayac Aurélie Robert Isabelle Koscinski Isabelle Gastin Pierre Filhine-Tresarrieu Mihaela Pupavac Alison Brebner David Watkins Tomi Pastinen Alexandre Montpetit Fadi Hariri David Tregouët Benjamin A Raby Wendy K. Chung Pierre-Emmanuel Morange D. Sean Froese Matthias R. Baumgartner Jean-François Benoist Can Ficicioglu Virginie Marchand Yuri Motorin Chrystèle Bonnemains François Feillet Jacek Majewski David S. Rosenblatt |
| author_facet |
Jean-Louis Guéant Céline Chéry Abderrahim Oussalah Javad Nadaf David Coelho Thomas Josse Justine Flayac Aurélie Robert Isabelle Koscinski Isabelle Gastin Pierre Filhine-Tresarrieu Mihaela Pupavac Alison Brebner David Watkins Tomi Pastinen Alexandre Montpetit Fadi Hariri David Tregouët Benjamin A Raby Wendy K. Chung Pierre-Emmanuel Morange D. Sean Froese Matthias R. Baumgartner Jean-François Benoist Can Ficicioglu Virginie Marchand Yuri Motorin Chrystèle Bonnemains François Feillet Jacek Majewski David S. Rosenblatt |
| author_sort |
Jean-Louis Guéant |
| title |
A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients |
| title_short |
A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients |
| title_full |
A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients |
| title_fullStr |
A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients |
| title_full_unstemmed |
A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients |
| title_sort |
prdx1 mutant allele causes a mmachc secondary epimutation in cblc patients |
| publisher |
Nature Portfolio |
| publishDate |
2018 |
| url |
https://doaj.org/article/cbd6be2fd8e245cb84a21aa02a029651 |
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