Missense variants in ALAS 2 gene in five patients-Reference-Cited by-同舟云学术

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Missense variants in ALAS 2 gene in five patients

Published:2018-07-17 Issue:1 Volume:41 Page:
ISSN:1751-5521
Container-title:International Journal of Laboratory Hematology
language:en
Short-container-title:Int J Lab Hem

Author:

Moreno‐Carralero María‐Isabel¹,Arrizabalaga‐Amuchastegui Beatriz²,Sánchez‐Calero‐Guilarte Jorge³,Morado‐Arias Marta⁴,Velasco‐Valdazo Alberto‐Eterio⁵,de‐la‐Iglesia‐Iñigo Silvia⁶,Méndez Manuel¹,Morán‐Jiménez María‐José¹^ORCID

Affiliation:

1. Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12) Madrid Spain

2. Servicio de Hematología Hospital Universitario de Cruces Bilbao Spain

3. Servicio de Hematología Hospital Universitario de Móstoles Madrid Spain

4. Servicio de Hematología y Hemoterapia Hospital Universitario La Paz Madrid Spain

5. Servicio de Hematología Clínica Hospital Universitario Rey Juan Carlos de Móstoles Madrid Spain

6. Servicio de Hematología y Hemoterapia Hospital Universitario Doctor Negrín Las Palmas de Gran Canaria Spain

Funder

Fundación Mutua Madrileña

Publisher

Wiley

Subject

Biochemistry, medical,Clinical Biochemistry,Hematology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ijlh.12902

Reference15 articles.

1. Sideroblastic Anemia

2. Diagnosis and treatment of sideroblastic anemias: from defective heme synthesis to abnormal RNA splicing

3. Iron metabolism in erythroid cells and patients with congenital sideroblastic anemia

4. Sideroblastic anemia: functional study of two novel missense mutations in ALAS 2

5. Microcytic anemia in a pregnant woman: beyond iron deficiency

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1. Deconvoluting the Complexity of Congenital Sideroblastic Anemias through Genetic and Functional Profiling;The Journal of Molecular Diagnostics;2024-05

2. Comprehensive Genomic Analysis Identifies a Diverse Landscape of Sideroblastic and Nonsideroblastic Iron-Related Anemias with Novel and Pathogenic Variants in an Iron-Deficient Endemic Setting;The Journal of Molecular Diagnostics;2024-05

3. Structural basis for dysregulation of aminolevulinic acid synthase in human disease;Journal of Biological Chemistry;2022-03

4. X-linked sideroblastic anaemia in a female fetus: a case report and a literature review;BMC Medical Genomics;2021-12

5. Novel frameshift variant (c.409dupG) in SLC25A38 is a common cause of congenital sideroblastic anaemia in the Indian subcontinent;Journal of Clinical Pathology;2020-06-30

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