(Q73373497)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9166584%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

title

A serine-to-proline mutation in the copper-transporting P-type ATPase gene of the macular mouse (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9166584%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

author name string

M Mori

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9166584%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

M Nishimura

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9166584%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

publication date

1 June 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9166584%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

number of pages

4

1 reference

inferred from page(s)

published in

Mammalian Genome

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9166584%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

volume

8

1 reference

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3 November 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9166584%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

page(s)

407-410

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9166584%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s003359900457

3 November 2019

exact match

0 references

cites work

Conservative amino acid substitution in the myelin proteolipid protein of jimpymsd mice

1 reference

12 December 2020

A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse

1 reference

12 December 2020

Altered copper metabolism in cultured cells from human Menkes' syndrome and mottled mouse mutants

1 reference

12 December 2020

Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A

1 reference

12 December 2020

Clinico-pathological study on macular mutant mouse

1 reference

12 December 2020

1 reference

12 December 2020

Biochemical characterization and intracellular localization of the Menkes disease protein

1 reference

12 December 2020

Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder

1 reference

12 December 2020

Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein

1 reference

12 December 2020

Genomic organization of the mottled gene, the mouse homologue of the human Menkes disease gene

1 reference

12 December 2020

Histochemical localization of copper in the intestine and kidney of macular mice: light and electron microscopic study

1 reference

12 December 2020

Transgene detection in mouse tail digests

1 reference

12 December 2020

Trembler mouse carries a point mutation in a myelin gene

1 reference

12 December 2020

The mottled gene is the mouse homologue of the Menkes disease gene

1 reference

12 December 2020

Menkes disease: a biochemical abnormality in cultured human fibroblasts

1 reference

12 December 2020

Mutations in the murine homologue of the Menkes gene in dappled and blotchy mice

1 reference

12 December 2020

Localization of Menkes gene expression in the mouse brain; its association with neurological manifestations in Menkes model mice.

1 reference

12 December 2020

Diverse mutations in patients with Menkes disease often lead to exon skipping

1 reference

12 December 2020

mRNAs for plasma membrane calcium pump isoforms differing in their regulatory domain are generated by alternative splicing that involves two internal donor sites in a single exon

1 reference

12 December 2020

Copper incorporation studies on cultured cells for prenatal diagnosis of Menkes' disease

1 reference

12 December 2020

Pelizaeus-Merzbacher disease: a valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid

1 reference

12 December 2020

Myelin-deficient rat: a point mutation in exon III (A----C, Thr75----Pro) of the myelin proteolipid protein causes dysmyelination and oligodendrocyte death

1 reference

12 December 2020

Molecular cloning of cDNAs from human kidney coding for two alternatively spliced products of the cardiac Ca2+-ATPase gene

1 reference

12 December 2020

Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus

1 reference

12 December 2020

Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein

1 reference

12 December 2020

Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase

1 reference

12 December 2020

Ligand-regulated transport of the Menkes copper P-type ATPase efflux pump from the Golgi apparatus to the plasma membrane: a novel mechanism of regulated trafficking

1 reference

12 December 2020

1 reference

12 December 2020

Analysis of Mnk, the murine homologue of the locus for Menkes disease, in normal and mottled (Mo) mice

1 reference

12 December 2020

A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration

1 reference

12 December 2020

Pelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene exon variant

1 reference

12 December 2020

A new mutation in the proteolipid protein (PLP) gene in a German family with pelizaeus-merzbacher disease

1 reference

12 December 2020

Isolation of a partial candidate gene for Menkes disease by positional cloning

1 reference

12 December 2020

Identifiers

DOI

10.1007/S003359900457

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9166584%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference