PMC Links for OMIM (Select 250940) - PMC

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Items: 3

Select item 13773171.

Functionally null mutations in patients with the cblG-variant form of methionine synthase deficiency.

A Wilson, D Leclerc, F Saberi, E Campeau, H Y Hwang, B Shane, J A Phillips, 3rd, D S Rosenblatt, R A Gravel

Am J Hum Genet. 1998 Aug; 63(2): 409–414. doi: 10.1086/301976

PMCID:: PMC1377317

Summary PDF–1.8M

Select item 4426122.

Genetic heterogeneity among patients with methylcobalamin deficiency. Definition of two complementation groups, cblE and cblG.

D Watkins, D S Rosenblatt

J Clin Invest. 1988 Jun; 81(6): 1690–1694. doi: 10.1172/JCI113507

PMCID:: PMC442612

Summary Page Browse PDF–1.0M

Select item 3849713.

Hyperhomocysteinemia Due to Methionine Synthase Deficiency, cblG: Structure of the MTR Gene, Genotype Diversity, and Recognition of a Common Mutation, P1173L

David Watkins, Ming Ru, Hye-Yeon Hwang, Caroline D. Kim, Angus Murray, Noah S. Philip, William Kim, Helen Legakis, Timothy Wai, John F. Hilton, Bing Ge, Carole Doré, Angela Hosack, Aaron Wilson, Roy A. Gravel, Barry Shane, Thomas J. Hudson, David S. Rosenblatt

Am J Hum Genet. 2002 Jul; 71(1): 143–153. Published online 2002 May 30. doi: 10.1086/341354