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Journal Articles

Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts

David F. Bishop, Xiaoye Schneider-Yin, Sonia Clavero, Han-Wook Yoo, Elisabeth I. Minder, Robert J. Desnick

Blood (2010) 115 (5): 1062–1069.

https://doi.org/10.1182/blood-2009-04-218016

Published: 2010

Includes: Supplemental data

Journal Articles

Identification and Characterization of Feline Acute Intermittent Porphyria: The First Naturally-Occurring Animal Model.

Sonia Clavero, PhD, David F Bishop, PhD, Mark E Haskins, VMD, PhD, Raili Kauppinen, MD, PhD, Urs Giger, PD, DMV, Robert J Desnick, MD

Blood (2009) 114 (22): 3014.

https://doi.org/10.1182/blood.V114.22.3014.3014

Published: 2009

Journal Articles

A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia

Soumeya Bekri, Alison May, Philip D. Cotter, Ala I. Al-Sabah, Xiaojun Guo, Gillian S. Masters, David F. Bishop

Blood (2003) 102 (2): 698–704.

https://doi.org/10.1182/blood-2002-06-1623

Published: 2003

Journal Articles

Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation

Mario Cazzola, Alison May, Gaetano Bergamaschi, Paola Cerani, Sara Ferrillo, David F. Bishop

Blood (2002) 100 (12): 4236–4238.

https://doi.org/10.1182/blood-2002-03-0685

Published: 2002

Journal Articles

Familial-skewed X-chromosome inactivation as a predisposing factor for late-onset X-linked sideroblastic anemia in carrier females

Mario Cazzola, Alison May, Gaetano Bergamaschi, Paola Cerani, Vittorio Rosti, David F. Bishop

Blood (2000) 96 (13): 4363–4365.

https://doi.org/10.1182/blood.V96.13.4363

Published: 2000

Journal Articles

Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation

Soumeya Bekri, Gyula Kispal, Heike Lange, Edward Fitzsimons, John Tolmie, Roland Lill, David F. Bishop

Blood (2000) 96 (9): 3256–3264.

https://doi.org/10.1182/blood.V96.9.3256

Published: 2000

Journal Articles

Four New Mutations in the Erythroid-Specific 5-Aminolevulinate Synthase ( ALAS2 ) Gene Causing X-Linked Sideroblastic Anemia: Increased Pyridoxine Responsiveness After Removal of Iron Overload by Phlebotomy and Coinheritance of Hereditary Hemochromatosis

Philip D. Cotter, Alison May, Liping Li, A.I. Al-Sabah, Edward J. Fitzsimons, Mario Cazzola, David F. Bishop

Blood (1999) 93 (5): 1757–1769.

https://doi.org/10.1182/blood.V93.5.1757

Published: 1999

NARROW

Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts

Identification and Characterization of Feline Acute Intermittent Porphyria: The First Naturally-Occurring Animal Model.

A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia

Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation

Familial-skewed X-chromosome inactivation as a predisposing factor for late-onset X-linked sideroblastic anemia in carrier females

Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation

Four New Mutations in the Erythroid-Specific 5-Aminolevulinate Synthase ( ALAS2 ) Gene Causing X-Linked Sideroblastic Anemia: Increased Pyridoxine Responsiveness After Removal of Iron Overload by Phlebotomy and Coinheritance of Hereditary Hemochromatosis

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American Society of Hematology

Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts

Identification and Characterization of Feline Acute Intermittent Porphyria: The First Naturally-Occurring Animal Model.

A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia

Absent phenotypic expression of X-linked sideroblastic anemia in one of 2 brothers with a novel ALAS2 mutation

Familial-skewed X-chromosome inactivation as a predisposing factor for late-onset X-linked sideroblastic anemia in carrier females

Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation

Four New Mutations in the Erythroid-Specific 5-Aminolevulinate Synthase ( ALAS2 ) Gene Causing X-Linked Sideroblastic Anemia: Increased Pyridoxine Responsiveness After Removal of Iron Overload by Phlebotomy and Coinheritance of Hereditary Hemochromatosis

Email alerts

ASH Publications

American Society of Hematology

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