(Q34306328)

1 August 2017

A novel alteration in metaxin 1, F202L, is associated with N370S in Gaucher disease (English)

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1 August 2017

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Mauricio Arcos-Burgos

object named as

Mauricio Arcos-Burgos

4

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author name string

Mary E LaMarca

1

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1 August 2017

Mona Goldstein

2

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1 August 2017

Nahid Tayebi

3

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1 August 2017

Brian M Martin

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1 August 2017

Ellen Sidransky

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1 August 2017

13 March 2004

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Journal of Human Genetics

1 August 2017

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1 August 2017

49

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1 August 2017

220-222

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1 August 2017

4

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https://scigraph.springernature.com/pub.10.1007/s10038-004-0134-7

1 August 2017

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cites work

Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease

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12 December 2020

Polymorphisms in the human glucocerebrosidase gene

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12 December 2020

Structure and organization of the human metaxin gene (MTX) and pseudogene

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12 December 2020

Linkage of the PvuII polymorphism with the common Jewish mutation for Gaucher disease.

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12 December 2020

Metaxin, a gene contiguous to both thrombospondin 3 and glucocerebrosidase, is required for embryonic development in the mouse: implications for Gaucher disease

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12 December 2020

Functional analysis of human metaxin in mitochondrial protein import in cultured cells and its relationship with the Tom complex

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12 December 2020

Two novel polymorphic sequences in the glucocerebrosidase gene region enhance mutational screening and founder effect studies of patients with Gaucher disease

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12 December 2020

Gaucher disease: Perspectives on a prototype lysosomal disease

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12 December 2020

Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup.

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12 December 2020

Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics

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12 December 2020

Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease

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12 December 2020

Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations

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12 December 2020

Metaxin is a component of a preprotein import complex in the outer membrane of the mammalian mitochondrion

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12 December 2020

10.1007/S10038-004-0134-7

Identifiers

DOI

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1 August 2017

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