PMC Links for Nucleotide (Select 1813771979) - PMC

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Items: 5

Select item 65029531.

Clonal Cell Proliferation in Paroxysmal Nocturnal Hemoglobinuria: Evaluation of PIGA Mutations and T-cell Receptor Clonality

Joonhong Park, Myungshin Kim, Yonggoo Kim, Kyungja Han, Nack-Gyun Chung, Bin Cho, Sung-Eun Lee, Jong Wook Lee

Ann Lab Med. 2019 Sep; 39(5): 438–446. Published online 2019 Apr 26. doi: 10.3343/alm.2019.39.5.438

PMCID:: PMC6502953

Abstract Article PDF–420K

Select item 61606992.

A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia‐seizures syndrome 2 (MCAHS2) family pedigree via whole‐exome sequencing

Junli Yang, Qiong Wang, Qingcui Zhuo, Huiling Tian, Wen Li, Fang Luo, Jinghui Zhang, Dan Bi, Jing Peng, Dong Zhou, Huawei Xin

Mol Genet Genomic Med. 2018 Sep; 6(5): 739–748. Published online 2018 Jul 4. doi: 10.1002/mgg3.428

PMCID:: PMC6160699

Abstract Article PDF–2.0M

Select item 3947843.

Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG-A gene.

M Bessler, P J Mason, P Hillmen, T Miyata, N Yamada, J Takeda, L Luzzatto, T Kinoshita

EMBO J. 1994 Jan 1; 13(1): 110–117. doi: 10.1002/j.1460-2075.1994.tb06240.x

PMCID:: PMC394784

Summary Page Browse PDF–1.8M

Select item 48759684.

Reducing the Cost of the Diagnostic Odyssey in Early Onset Epileptic Encephalopathies

Charuta Joshi, Diana L. Kolbe, M. Adela Mansilla, Sara O. Mason, Richard J. H. Smith, Colleen A. Campbell

Biomed Res Int. 2016; 2016: 6421039. Published online 2016 May 8. doi: 10.1155/2016/6421039

PMCID:: PMC4875968

Abstract Article PDF–945K

Select item 27480495.

Class III Phosphatidylinositol 4-Kinase Alpha and Beta Are Novel Host Factor Regulators of Hepatitis C Virus Replication

Jason Borawski, Philip Troke, Xiaoling Puyang, Veronica Gibaja, ShanChaun Zhao, Craig Mickanin, Juliet Leighton-Davies, Christopher J. Wilson, Vic Myer, Ivan CornellaTaracido, Jeremy Baryza, John Tallarico, Gerard Joberty, Marcus Bantscheff, Markus Schirle, Tewis Bouwmeester, Joanna E. Mathy, Kai Lin, Teresa Compton, Mark Labow, Brigitte Wiedmann, L. Alex Gaither

J Virol. 2009 Oct; 83(19): 10058–10074. Published online 2009 Jul 15. doi: 10.1128/JVI.02418-08