(Q30329655)

18 June 2017

title

X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L. (English)

1 reference

X-linked cerebellar ataxia

18 June 2017

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1 reference

1 reference

Maguire A

1

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18 June 2017

Hellier K

series ordinal

2

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18 June 2017

Hammans S

series ordinal

3

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18 June 2017

May A

series ordinal

4

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18 June 2017

language of work or name

English

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publication date

1 December 2001

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British Journal of Haematology

18 June 2017

published in

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18 June 2017

volume

115

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18 June 2017

issue

4

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18 June 2017

page(s)

910-917

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Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A)

18 June 2017

cites work

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2001.03015.X

Thiamine-responsive anemia in DIDMOAD syndrome

21 January 2018

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Identification of a human mitochondrial ABC transporter, the functional orthologue of yeast Atm1p

21 January 2018

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Analysis of the accuracy and implications of simple methods for predicting the secondary structure of globular proteins

21 January 2018

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From sideroblastic anemia to the role of mitochondrial DNA mutations in myelodysplastic syndromes

21 January 2018

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Reciprocal control of RNA-binding and aconitase activity in the regulation of the iron-responsive element binding protein: role of the iron-sulfur cluster

21 January 2018

1 reference

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X-linked sideroblastic anaemia with ataxia: another mitochondrial disease?

21 January 2018

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A cis-acting element is necessary and sufficient for translational regulation of human ferritin expression in response to iron

21 January 2018

1 reference

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A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)

21 January 2018

1 reference

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The ABC transporter Atm1p is required for mitochondrial iron homeostasis

21 January 2018

1 reference

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The mitochondrial proteins Atm1p and Nfs1p are essential for biogenesis of cytosolic Fe/S proteins

21 January 2018

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A simple method for displaying the hydropathic character of a protein

21 January 2018

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Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness

21 January 2018

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Maturation of cellular Fe-S proteins: an essential function of mitochondria

21 January 2018

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21 January 2018

Sideroblastic anaemia

1 reference

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A simple salting out procedure for extracting DNA from human nucleated cells

21 January 2018

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A specific mRNA binding factor regulates the iron-dependent stability of cytoplasmic transferrin receptor mRNA.

21 January 2018

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A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction

21 January 2018

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Isolation and chromosomal mapping of a novel ATP-binding cassette transporter conserved in mouse and human.

21 January 2018

1 reference

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Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia

21 January 2018

1 reference

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Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein

21 January 2018

1 reference

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10.1046/J.1365-2141.2001.03015.X

21 January 2018

Identifiers

DOI

1 reference

18 June 2017

1 reference