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Journal Articles

Folate-Dependent Normocytic Anemia Caused By a Hypomorphic Mutation in SLC19A1 gene

Michael Svaton, MD, Karolina Skvarova Kramarzova, MSc, PhD, Veronika Kanderova, MSc, PhD, Petr Smisek, MD, Pavel Jesina, MSc, MD, PhD, Jakub Krijt, MSc, Blanka Stiburkova, MSc, PhD, Andrea Mancikova, MSc, Robert Dobrovolny, MSc, PhD, Violeta Bakardjieva-Mihaylova, MSc, Elena Vodickova, MD, Jan Stuchly, MSc, Tomas Kalina, MD PhD, Jan Stary, MD PhD, Jan Trka, MD PhD, Eva Fronkova, MD PhD, Viktor Kozich, MD PhD

Blood (2018) 132 (Supplement 1): 502.

https://doi.org/10.1182/blood-2018-99-113501

Published: 2018

Journal Articles

A mouse model of hereditary folate malabsorption: deletion of the PCFT gene leads to systemic folate deficiency

Konstantin V. Salojin, Robert M. Cabrera, Weimei Sun, Wei Chun Chang, Colin Lin, Lindsay Duncan, Ken A. Platt, Robert Read, Peter Vogel, Qingyun Liu, Richard H. Finnell, Tamas Oravecz

Blood (2011) 117 (18): 4895–4904.

https://doi.org/10.1182/blood-2010-04-279653

Published: 2011

Journal Articles

Functional roles of aspartate residues of the proton-coupled folate transporter (PCFT-SLC46A1); a D156Y mutation causing hereditary folate malabsorption

Daniel Sanghoon Shin, Sang Hee Min, Laura Russell, Rongbao Zhao, Andras Fiser, I. David Goldman

Blood (2010) 116 (24): 5162–5169.

https://doi.org/10.1182/blood-2010-06-291237

Published: 2010

Journal Articles

A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function

Inbal Lasry, Bluma Berman, Rachel Straussberg, Yael Sofer, Hanna Bessler, Mohamad Sharkia, Fabian Glaser, Gerrit Jansen, Stavit Drori, Yehuda G. Assaraf

Blood (2008) 112 (5): 2055–2061.

https://doi.org/10.1182/blood-2008-04-150276

Published: 2008

Includes: Supplemental data

Journal Articles

The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption

Rongbao Zhao, Sang Hee Min, Andong Qiu, Antoinette Sakaris, Gary L. Goldberg, Claudio Sandoval, J. Jeffrey Malatack, David S. Rosenblatt, I. David Goldman

Blood (2007) 110 (4): 1147–1152.

https://doi.org/10.1182/blood-2007-02-077099

Published: 2007

NARROW

Folate-Dependent Normocytic Anemia Caused By a Hypomorphic Mutation in SLC19A1 gene

A mouse model of hereditary folate malabsorption: deletion of the PCFT gene leads to systemic folate deficiency

Functional roles of aspartate residues of the proton-coupled folate transporter (PCFT-SLC46A1); a D156Y mutation causing hereditary folate malabsorption

A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function

The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption

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ASH Publications

American Society of Hematology

Folate-Dependent Normocytic Anemia Caused By a Hypomorphic Mutation in SLC19A1 gene

A mouse model of hereditary folate malabsorption: deletion of the PCFT gene leads to systemic folate deficiency

Functional roles of aspartate residues of the proton-coupled folate transporter (PCFT-SLC46A1); a D156Y mutation causing hereditary folate malabsorption

A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function

The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption

Email alerts

ASH Publications

American Society of Hematology

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