(Q28243614)

English

Molecular and genetic characterisation of German families with paramyotonia congenita and demonstration of founder effect in the Ravensberg families

scientific article (publication date: June 1994)

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scholarly article

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Molecular and genetic characterisation of German families with paramyotonia congenita and demonstration of founder effect in the Ravensberg families (English)

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paramyotonia congenita

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author name string

C Meyer-Kleine

1

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M Otto

2

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B Zoll

3

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M C Koch

4

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language of work or name

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publication date

June 1994

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93

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6

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707-10

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Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/8005599

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita

1 reference

https://pubmed.ncbi.nlm.nih.gov/8005599

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8005599

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8005599

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular genetic and genetic correlations in sodium channelopathies: lack of founder effect and evidence for a second gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/8005599

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genotype-phenotype correlations in human skeletal muscle sodium channel diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/8005599

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genomic organization of the human skeletal muscle sodium channel gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/8005599

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetics and Physiology of the Myotonic Muscle Disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/8005599

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions

1 reference

https://pubmed.ncbi.nlm.nih.gov/8005599

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8005599

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita

1 reference

https://pubmed.ncbi.nlm.nih.gov/8005599

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00201577

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