(Q33878752)

29 July 2017

title

Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene (English)

1 reference

29 July 2017

author

Georgios M Hadjigeorgiou

1

object named as

G M Hadjigeorgiou

1 reference

29 July 2017

N Kawashima

2

1 reference

29 July 2017

C Bruno

3

1 reference

29 July 2017

A L Andreu

4

1 reference

29 July 2017

C M Sue

5

1 reference

29 July 2017

D J Rigden

6

1 reference

29 July 2017

A Kawashima

7

1 reference

29 July 2017

S Shanske

8

1 reference

29 July 2017

S DiMauro

9

1 reference

29 July 2017

language of work or name

1 reference

1 October 1999

1 reference

29 July 2017

published in

Neuromuscular Disorders

1 reference

29 July 2017

volume

9

1 reference

29 July 2017

issue

6-7

1 reference

29 July 2017

page(s)

399-402

1 reference

66 Phosphoglycerate mutase from yeast, chicken breast muscle, and kidney (2,3-PGA-dependent)

29 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900039-5

7 January 2021

Human Muscle Phosphoglycerate Mutase Deficiency: Newly Discovered Metabolic Myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900039-5

7 January 2021

A single MEF-2 site is a major positive regulatory element required for transcription of the muscle-specific subunit of the human phosphoglycerate mutase gene in skeletal and cardiac muscle cells

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900039-5

7 January 2021

Isolation and characterization of the gene encoding the muscle-specific isozyme of human phosphoglycerate mutase

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900039-5

7 January 2021

The gene for human muscle-specific phosphoglycerate mutase, PGAM2, mapped to chromosome 7 by polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900039-5

7 January 2021

In situ mapping of the muscle-specific form of phosphoglycerate mutase gene to human chromosome 7p12-7p13

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900039-5

7 January 2021

Molecular genetic studies in muscle phosphoglycerate mutase (PGAM-M) deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900039-5

7 January 2021

Molecular basis of muscle phosphoglycerate mutase (PGAM-M) deficiency in the Italian kindred

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900039-5

7 January 2021

Muscle phosphogylcerate mutase (PGAM) deficiency: A second case

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900039-5

7 January 2021

Partial deficiency of phosphoglycerate mutase with diabetic polyneuropathy: the first Japanese patient

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900039-5

7 January 2021

McArdle's disease in two generations: autosomal recessive transmission with manifesting heterozygote

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900039-5

7 January 2021

McArdle's disease: two clinical expressions in the same pedigree

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900039-5

7 January 2021

Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease)

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900039-5

7 January 2021

Biochemistry and molecular genetics of human glycogenoses: An overview

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900039-5

7 January 2021

The 2.3 A X-ray crystal structure of S. cerevisiae phosphoglycerate mutase

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900039-5

7 January 2021

10.1016/S0960-8966(99)00039-5

Identifiers

DOI

1 reference

29 July 2017

1 reference