(Q34031252)

30 July 2017

title

Missense mutation in PFKM associated with muscle-type phosphofructokinase deficiency in the Wachtelhund dog. (English)

1 reference

phosphofructokinase deficiency

30 July 2017

main subject

1 reference

1 reference

ORCID Public Data File 2021

author name string

G Inal Gultekin

1

1 reference

30 July 2017

K Raj

2

1 reference

30 July 2017

S Lehman

3

1 reference

30 July 2017

A Hillström

4

1 reference

30 July 2017

U Giger

5

1 reference

30 July 2017

publication date

16 March 2012

1 reference

Molecular and Cellular Probes

30 July 2017

published in

1 reference

30 July 2017

volume

26

1 reference

30 July 2017

issue

6

1 reference

30 July 2017

page(s)

243-247

1 reference

Erythrocytic pyruvate kinase mutations causing hemolytic anemia, osteosclerosis, and seconday hemochromatosis in dogs

30 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485442

Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII)

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485442

Hereditary phosphofructokinase deficiency in wachtelhunds

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485442

Hemolysis, myopathy, and cardiac disease associated with hereditary phosphofructokinase deficiency in two Whippets

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485442

Tarui disease and distal glycogenoses: clinical and genetic update

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485442

A novel missense mutation responsible for factor VII deficiency in research Beagle colonies

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485442

Pathogenesis, laboratory diagnosis, and clinical implications of erythrocyte enzyme deficiencies in dogs, cats, and horses

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485442

Breed distribution and history of canine mdr1-1Delta, a pharmacogenetic mutation that marks the emergence of breeds from the collie lineage

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485442

Phosphofructokinase deficiency; past, present and future

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485442

Expression of mouse phosphofructokinase-M gene alternative transcripts: evidence for the conserved two-promoter system

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485442

Analysis of the phosphofructokinase subunits and isoenzymes in human tissues

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485442

Hemolysis caused by phosphofructokinase deficiency in English springer spaniels: seven cases (1983-1986).

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485442

Alternative splicing of the transcript encoding the human muscle isoenzyme of phosphofructokinase

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485442

Inherited phosphofructokinase deficiency in an American cocker spaniel

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485442

Hereditary factor VII deficiency in the Alaskan Klee Kai dog.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485442

A von Willebrand's factor genomic nucleotide variant and polymerase chain reaction diagnostic test associated with inheritable type-2 von Willebrand's disease in a line of german shorthaired pointer dogs

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485442

Novel testis- and embryo-specific isoforms of the phosphofructokinase-1 muscle type gene.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485442

Ivermectin sensitivity in collies is associated with a deletion mutation of the mdr1 gene

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485442

Molecular basis of canine muscle type phosphofructokinase deficiency

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485442

The molecular basis of canine pyruvate kinase deficiency

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485442

Breed distribution of the nt230(del4) MDR1 mutation in dogs

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3485442

Inherited phosphofructokinase deficiency in dogs with hyperventilation-induced hemolysis: increased in vitro and in vivo alkaline fragility of erythrocytes

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22446493

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Autosomal recessive inherited phosphofructokinase deficiency in English springer spaniel dogs

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22446493

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identification of a 6 base pair insertion in West Highland White Terriers with erythrocyte pyruvate kinase deficiency

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22446493

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.MCP.2012.02.004

1 reference

30 July 2017

1 reference

30 July 2017

1 reference