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Journal Articles

Hscb , a Mitochondrial Iron-Sulfur Cluster Assembly Co-Chaperone, Is a Novel Candidate Gene for Congenital Sideroblastic Anemia

Andrew Crispin, BS, Paul Schmidt, PhD, Dean Campagna, BS, Chang Cao, PhD, Daniel Lichtenstein, BS, Anoop Sendamarai, PhD, Chaoshe Guo, PhD, Caiyong Chen, PhD, Gordon J Hildick-Smith, MD, Nicolas C Huston, BA, Jeanne Boudreaux, MD, Sylvia S. Bottomley, MD, Matthew M Heeney, MD, Barry H. Paw, MD PhD, Mark D. Fleming, MD DPhil, Sarah Ducamp, PhD

Blood (2017) 130 (Supplement 1): 79.

https://doi.org/10.1182/blood.V130.Suppl_1.79.79

Published: 2017

Journal Articles

A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia

Daniel A. Lichtenstein, Andrew W. Crispin, Anoop K. Sendamarai, Dean R. Campagna, Klaus Schmitz-Abe, Cristovao M. Sousa, Martin D. Kafina, Paul J. Schmidt, Charlotte M. Niemeyer, John Porter, Alison May, Mrinal M. Patnaik, Matthew M. Heeney, Alec Kimmelman, Sylvia S. Bottomley, Barry H. Paw, Kyriacos Markianos, Mark D. Fleming

Blood (2016) 128 (15): 1913–1917.

https://doi.org/10.1182/blood-2016-05-719062

Published: 2016

Includes: Supplemental data

Journal Articles

Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9

Blood (2015) 126 (25): 2734–2738.

https://doi.org/10.1182/blood-2015-09-659854

Published: 2015

Includes: Supplemental data

Journal Articles

Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)

Blood (2014) 124 (18): 2867–2871.

https://doi.org/10.1182/blood-2014-08-591370

Published: 2014

Includes: Supplemental data

Journal Articles

A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD)

Blood (2013) 122 (1): 112–123.

https://doi.org/10.1182/blood-2012-08-439083

Published: 2013

Includes: Supplemental data

Journal Articles

Systematic Analysis of Known Candidate Genes in 58 Probands with Previously Uncharacterized Congenital Sideroblastic Anemia: Evidence for Genetic Heterogeneity and Identification of Novel Mutations in ALAS2 and PUS1

Anke K. Neuwirth, Dean R. Campagna, Mark D. Fleming, Sylvia S. Bottomley, Ellis J. Neufeld

Blood (2008) 112 (11): 484.

https://doi.org/10.1182/blood.V112.11.484.484

Published: 2008

Journal Articles

Characterization and Measurement of Heme Synthetase in Normal Human Bone Marrow

SYLVIA S. BOTTOMLEY, M.D.

Blood (1968) 31 (3): 314–322.

https://doi.org/10.1182/blood.V31.3.314.314

Published: 1968

NARROW

Hscb , a Mitochondrial Iron-Sulfur Cluster Assembly Co-Chaperone, Is a Novel Candidate Gene for Congenital Sideroblastic Anemia

A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia

Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9

Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)

A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD)

Systematic Analysis of Known Candidate Genes in 58 Probands with Previously Uncharacterized Congenital Sideroblastic Anemia: Evidence for Genetic Heterogeneity and Identification of Novel Mutations in ALAS2 and PUS1

Characterization and Measurement of Heme Synthetase in Normal Human Bone Marrow

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ASH Publications

American Society of Hematology

Hscb , a Mitochondrial Iron-Sulfur Cluster Assembly Co-Chaperone, Is a Novel Candidate Gene for Congenital Sideroblastic Anemia

A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia

Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9

Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)

A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD)

Systematic Analysis of Known Candidate Genes in 58 Probands with Previously Uncharacterized Congenital Sideroblastic Anemia: Evidence for Genetic Heterogeneity and Identification of Novel Mutations in ALAS2 and PUS1

Characterization and Measurement of Heme Synthetase in Normal Human Bone Marrow

Email alerts

ASH Publications

American Society of Hematology

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