(Q33873726)

29 July 2017

Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene (English)

1 reference

29 July 2017

1 reference

glycogen storage disease

1 reference

Hou DC

1

1 reference

29 July 2017

Kure S

2

1 reference

29 July 2017

Suzuki Y

3

1 reference

29 July 2017

Hasegawa Y

4

1 reference

29 July 2017

Hara Y

5

1 reference

29 July 2017

Inoue T

6

1 reference

29 July 2017

Kida Y

7

1 reference

29 July 2017

Matsubara Y

8

1 reference

29 July 2017

Narisawa K

9

1 reference

29 July 2017

language of work or name

1 reference

1 September 1999

1 reference

American Journal of Medical Genetics Part A

29 July 2017

1 reference

29 July 2017

86

1 reference

29 July 2017

3

1 reference

29 July 2017

253-257

1 reference

The gene for glycogen-storage disease type 1b maps to chromosome 11q23.

29 July 2017

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990917%2986%3A3%3C253%3A%3AAID-AJMG11%3E3.0.CO%3B2-7

Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990917%2986%3A3%3C253%3A%3AAID-AJMG11%3E3.0.CO%3B2-7

Structure and function of the uhp genes for the sugar phosphate transport system in Escherichia coli and Salmonella typhimurium

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990917%2986%3A3%3C253%3A%3AAID-AJMG11%3E3.0.CO%3B2-7

Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990917%2986%3A3%3C253%3A%3AAID-AJMG11%3E3.0.CO%3B2-7

A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990917%2986%3A3%3C253%3A%3AAID-AJMG11%3E3.0.CO%3B2-7

A different isoform of the transport protein mutated in the glycogen storage disease 1b is expressed in brain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990917%2986%3A3%3C253%3A%3AAID-AJMG11%3E3.0.CO%3B2-7

A new variant of glycogen storage disease Type I probably due to a defect in the glucose-6-phosphate transport system

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990917%2986%3A3%3C253%3A%3AAID-AJMG11%3E3.0.CO%3B2-7

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990917%2986%3A3%3C253%3A%3AAID-AJMG11%3E3.0.CO%3B2-7

Neutropenia and impaired neutrophil migration in type IB glycogen storage disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990917%2986%3A3%3C253%3A%3AAID-AJMG11%3E3.0.CO%3B2-7

A direct evidence for defect in glucose-6-phosphate transport system in hepatic microsomal membrane of glycogen storage disease type IB

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990917%2986%3A3%3C253%3A%3AAID-AJMG11%3E3.0.CO%3B2-7

Glycogen storage disease type 1b: microsomal glucose-6-phosphatase system in two patients with different clinical findings

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990917%2986%3A3%3C253%3A%3AAID-AJMG11%3E3.0.CO%3B2-7

10.1002/(SICI)1096-8628(19990917)86:3<253::AID-AJMG11>3.0.CO;2-7

21 January 2018

Identifiers

DOI

1 reference

29 July 2017

1 reference