Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy
Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy
About this item
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Author / Creator
Chern, Tiffany , Achilleos, Annita , Tong, Xuefei , Hill, Matthew C. , Saltzman, Alexander B. , Reineke, Lucas C. , Chaudhury, Arindam , Dasgupta, Swapan K. , Redhead, Yushi , Watkins, David , Neilson, Joel R. , Thiagarajan, Perumal , Green, Jeremy B. A. , Malovannaya, Anna , Martin, James F. , Rosenblatt, David S. and Poché, Ross A.
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
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More information
Scope and Contents
Contents
Combined methylmalonic acidemia and homocystinuria
(cblC)
is the most common inborn error of intracellular cobalamin metabolism and due to mutations in
Methylmalonic Aciduria type C and Homocystinuria (MMACHC)
. Recently, mutations in the transcriptional regulators
HCFC1
and
RONIN (THAP11)
were shown to result in cellular ph...
Alternative Titles
Full title
Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy
Authors, Artists and Contributors
Author / Creator
Achilleos, Annita
Tong, Xuefei
Hill, Matthew C.
Saltzman, Alexander B.
Reineke, Lucas C.
Chaudhury, Arindam
Dasgupta, Swapan K.
Redhead, Yushi
Watkins, David
Neilson, Joel R.
Thiagarajan, Perumal
Green, Jeremy B. A.
Malovannaya, Anna
Martin, James F.
Rosenblatt, David S.
Poché, Ross A.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_18e20d90d2e9439192ddff6d1fb4cef0
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_18e20d90d2e9439192ddff6d1fb4cef0
Other Identifiers
ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/s41467-021-27759-7
