X-linked sideroblastic anemia and ataxia: A new family with identification of a fourth ABCB7 gene mutation-Reference-Cited by-同舟云学术

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X-linked sideroblastic anemia and ataxia: A new family with identification of a fourth ABCB7 gene mutation

Published:2012-11 Issue:6 Volume:16 Page:730-735
ISSN:1090-3798
Container-title:European Journal of Paediatric Neurology
language:en
Short-container-title:European Journal of Paediatric Neurology

Author:

D’Hooghe Marc,Selleslag Dominik,Mortier Geert,Van Coster Rudy,Vermeersch Pieter,Billiet Johan,Bekri Soumeya

Publisher

Elsevier BV

Subject

Neurology (clinical),General Medicine,Pediatrics, Perinatology and Child Health

Reference29 articles.

1. The wobbly child: an approach to inherited ataxias;Bernard;Semin Pediatr Neurol,2008

2. Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations;Bergmann;Pediatr Blood Cancer,2010

3. Recent advances in the understanding of inherited sideroblastic anaemia;Camaschella;Br J Haematol,2008

4. Pappenheimer bodies: a brief historical review;Sears;Am J Hematol,2004

5. X-linked sideroblastic anemia and ataxia: linkage to phosphoglycerate kinase at Xq13;Raskind;Am J Hum Genet,1991

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2. Cryo-EM structure of AMP-PNP-bound human mitochondrial ATP-binding cassette transporter ABCB7;Journal of Structural Biology;2022-03

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4. SF3B1 mutant-induced missplicing of MAP3K7 causes anemia in myelodysplastic syndromes;Proceedings of the National Academy of Sciences;2021-12-20

5. X-Linked Ataxias;Handbook of the Cerebellum and Cerebellar Disorders;2021-12-05

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