PMC Links for Nucleotide (Select 1519246055) - PMC

Select item 67426461.

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations

Robert Fragoza, Jishnu Das, Shayne D. Wierbowski, Jin Liang, Tina N. Tran, Siqi Liang, Juan F. Beltran, Christen A. Rivera-Erick, Kaixiong Ye, Ting-Yi Wang, Li Yao, Matthew Mort, Peter D. Stenson, David N. Cooper, Xiaomu Wei, Alon Keinan, John C. Schimenti, Andrew G. Clark, Haiyuan Yu

Nat Commun. 2019; 10: 4141. Published online 2019 Sep 12. doi: 10.1038/s41467-019-11959-3

PMCID:: PMC6742646

Abstract Article PDF–1.2M

Select item 62982392.

Inherited thrombocytopenia associated with mutation of UDP-galactose-4-epimerase (GALE)

Aaron Seo, Suleyman Gulsuner, Sarah Pierce, Miri Ben-Harosh, Hanna Shalev, Tom Walsh, Tanya Krasnov, Orly Dgany, Sergei Doulatov, Hannah Tamary, Akiko Shimamura, Mary-Claire King

Hum Mol Genet. 2019 Jan 1; 28(1): 133–142. Published online 2018 Sep 20. doi: 10.1093/hmg/ddy334

PMCID:: PMC6298239

Abstract Article PDF–6.1M

Select item 42633713.

A Massively Parallel Pipeline to Clone DNA Variants and Examine Molecular Phenotypes of Human Disease Mutations

Xiaomu Wei, Jishnu Das, Robert Fragoza, Jin Liang, Francisco M. Bastos de Oliveira, Hao Ran Lee, Xiujuan Wang, Matthew Mort, Peter D. Stenson, David N. Cooper, Steven M. Lipkin, Marcus B. Smolka, Haiyuan Yu

PLoS Genet. 2014 Dec; 10(12): e1004819. Published online 2014 Dec 11. doi: 10.1371/journal.pgen.1004819

PMCID:: PMC4263371

Abstract Article PDF–7.6M

Select item 16273894.

Galactosaemia: a new severe variant due to uridine diphosphate galactose-4-epimerase deficiency.

J B Holton, M G Gillett, R MacFaul, R Young

Arch Dis Child. 1981 Nov; 56(11): 885–887. doi: 10.1136/adc.56.11.885

PMCID:: PMC1627389

Summary Page Browse PDF–444K

Select item 13802265.

Epimerase-Deficiency Galactosemia Is Not a Binary Condition

Kimberly K. Openo, Jenny M. Schulz, Claudia A. Vargas, Corey S. Orton, Michael P. Epstein, Rhonda E. Schnur, Fernando Scaglia, Gerard T. Berry, Gary S. Gottesman, Can Ficicioglu, Alfred E. Slonim, Richard J. Schroer, Chunli Yu, Vanessa E. Rangel, Jennifer Keenan, Kerri Lamance, Judith L. Fridovich-Keil

Am J Hum Genet. 2006 Jan; 78(1): 89–102. Published online 2005 Nov 14. doi: 10.1086/498985

PMCID:: PMC1380226

Abstract Article PDF–962K

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