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Year | Number of Results |
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2002 | 1 |
2006 | 2 |
2009 | 1 |
2017 | 1 |
2024 | 0 |
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Page 1
Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria.
Hum Mol Genet. 2002 Dec 15;11(26):3361-9. doi: 10.1093/hmg/11.26.3361.
Hum Mol Genet. 2002.
PMID: 12471062
Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria.
Lerner-Ellis JP, Gradinger AB, Watkins D, Tirone JC, Villeneuve A, Dobson CM, Montpetit A, Lepage P, Gravel RA, Rosenblatt DS.
Lerner-Ellis JP, et al.
Mol Genet Metab. 2006 Mar;87(3):219-25. doi: 10.1016/j.ymgme.2005.11.011. Epub 2006 Jan 10.
Mol Genet Metab. 2006.
PMID: 16410054
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Impact of cblB mutations on the function of ATP:cob(I)alamin adenosyltransferase in disorders of vitamin B12 metabolism.
Zhang J, Dobson CM, Wu X, Lerner-Ellis J, Rosenblatt DS, Gravel RA.
Zhang J, et al.
Mol Genet Metab. 2006 Apr;87(4):315-22. doi: 10.1016/j.ymgme.2005.12.003. Epub 2006 Jan 24.
Mol Genet Metab. 2006.
PMID: 16439175
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Ligand-binding by catalytically inactive mutants of the cblB complementation group defective in human ATP:cob(I)alamin adenosyltransferase.
Zhang J, Wu X, Padovani D, Schubert HL, Gravel RA.
Zhang J, et al.
Mol Genet Metab. 2009 Nov;98(3):278-84. doi: 10.1016/j.ymgme.2009.06.014. Epub 2009 Jun 27.
Mol Genet Metab. 2009.
PMID: 19625202
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Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group; Topper S.
Nykamp K, et al.
Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11.
Genet Med. 2017.
PMID: 28492532
Free PMC article.
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