(Q28210343)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1316765

12 September 2022

A. L. George

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1316765

12 September 2022

R. L. Barchi

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1316765

12 September 2022

R. C. Griggs

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1316765

12 September 2022

J. E. Riggs

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1316765

12 September 2022

M. Robertson

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1316765

12 September 2022

M. F. Leppert

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1316765

full work available at URL

12 September 2022

language of work or name

English

0 references

publication date

May 1992

0 references

https://api.elsevier.com/content/article/PII:089662739290203P?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/0896-6273(92)90203-P

https://api.elsevier.com/content/article/PII:089662739290203P?httpAccept=text/plain

4 December 2023

1 reference

https://api.crossref.org/works/10.1016/0896-6273(92)90203-P

4 December 2023

0 references

8

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page(s)

891-7

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issue

5

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cites work

Restriction sites containing CpG show a higher frequency of polymorphism in human DNA

2

1 reference

https://api.crossref.org/works/10.1016/0896-6273(92)90203-P

A sodium channel defect in hyperkalemic periodic paralysis: potassium-induced failure of inactivation

4 December 2023

3

1 reference

https://api.crossref.org/works/10.1016/0896-6273(92)90203-P

A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations

4 December 2023

4

1 reference

https://api.crossref.org/works/10.1016/0896-6273(92)90203-P

Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients

4 December 2023

5

1 reference

https://api.crossref.org/works/10.1016/0896-6273(92)90203-P

Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene

4 December 2023

6

1 reference

https://api.crossref.org/works/10.1016/0896-6273(92)90203-P

Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene

4 December 2023

7

1 reference

https://api.crossref.org/works/10.1016/0896-6273(92)90203-P

Assignment of a human skeletal muscle sodium channel α-subunit gene (SCN4A) to 17q23.1–25.3

4 December 2023

8

1 reference

https://api.crossref.org/works/10.1016/0896-6273(92)90203-P

Primary structure of the adult human skeletal muscle voltage‐dependent sodium channel

4 December 2023

10

1 reference

https://api.crossref.org/works/10.1016/0896-6273(92)90203-P

Effects of acetazolamide on myotonia

4 December 2023

11

1 reference

https://api.crossref.org/works/10.1016/0896-6273(92)90203-P

Identification and characterization of the familial adenomatous polyposis coli gene

4 December 2023

12

1 reference

https://api.crossref.org/works/10.1016/0896-6273(92)90203-P

Primary structure and expression of a sodium channel characteristic of denervated and immature rat skeletal muscle

4 December 2023

13

1 reference

https://api.crossref.org/works/10.1016/0896-6273(92)90203-P

Primary structure of rat brain sodium channel III deduced from the cDNA sequence

4 December 2023

14

1 reference

https://api.crossref.org/works/10.1016/0896-6273(92)90203-P

Confirmation of linkage of hyperkalaemic periodic paralysis to chromosome 17

4 December 2023

15

1 reference

https://api.crossref.org/works/10.1016/0896-6273(92)90203-P

Linkage data suggesting allelic heterogeneity for paramyotonia congenita and hyperkalemic periodic paralysis on chromosome 17.

4 December 2023

16

1 reference

https://api.crossref.org/works/10.1016/0896-6273(92)90203-P

Membrane defects in paramyotonia congenita with and without myotonia in a warm environment.

4 December 2023

17

1 reference

https://api.crossref.org/works/10.1016/0896-6273(92)90203-P

Adynamia episodica hereditaria with myotonia: a non-inactivating sodium current and the effect of extracellular pH

4 December 2023

18

1 reference

https://api.crossref.org/works/10.1016/0896-6273(92)90203-P

Membrane defects in paramyotonia congenita (Eulenburg)

4 December 2023

19

1 reference

https://api.crossref.org/works/10.1016/0896-6273(92)90203-P

Existence of distinct sodium channel messenger RNAs in rat brain

4 December 2023

21

1 reference

https://api.crossref.org/works/10.1016/0896-6273(92)90203-P

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

4 December 2023

23

1 reference

https://api.crossref.org/works/10.1016/0896-6273(92)90203-P

Alteration of voltage-dependence of Shaker potassium channel by mutations in the S4 sequence

4 December 2023

24

1 reference

https://api.crossref.org/works/10.1016/0896-6273(92)90203-P

Analysis in a large hyperkalemic periodic paralysis pedigree supports tight linkage to a sodium channel locus

4 December 2023

25

1 reference

https://api.crossref.org/works/10.1016/0896-6273(92)90203-P

Identification of a mutation in the gene causing hyperkalemic periodic paralysis

4 December 2023

27

1 reference

https://api.crossref.org/works/10.1016/0896-6273(92)90203-P

Linkage of atypical myotonia congenita to a sodium channel locus

4 December 2023

28

1 reference

https://api.crossref.org/works/10.1016/0896-6273(92)90203-P

4 December 2023

The periodic paralyses

30

1 reference

https://api.crossref.org/works/10.1016/0896-6273(92)90203-P

Acetazolamide-induced weakness in paramyotonia congenita

4 December 2023

32

1 reference

https://api.crossref.org/works/10.1016/0896-6273(92)90203-P

A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis

4 December 2023

34

1 reference

https://api.crossref.org/works/10.1016/0896-6273(92)90203-P

Abnormalities of the fast sodium current in myotonic dystrophy, recessive generalized myotonia, and adynamia episodica

4 December 2023

35

1 reference

https://api.crossref.org/works/10.1016/0896-6273(92)90203-P

DNA sequencing with chain-terminating inhibitors

4 December 2023

36

1 reference

https://api.crossref.org/works/10.1016/0896-6273(92)90203-P

Structural parts involved in activation and inactivation of the sodium channel

4 December 2023

37

1 reference

https://api.crossref.org/works/10.1016/0896-6273(92)90203-P

Primary structure and functional expression of a mammalian skeletal muscle sodium channel

4 December 2023

38

1 reference

https://api.crossref.org/works/10.1016/0896-6273(92)90203-P

4 December 2023

Identifiers

release_aaggqc6dxnbm7ihxw56i6fvaeq

0 references

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/aaggqc6dxnbm7ihxw56i6fvaeq

mapped directly with Wikidata item

24 November 2022

based on heuristic