Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Assignment of a human skeletal muscle sodium channel alpha-subunit gene (SCN4A) to 17q23.1-25.3.

Literature DB >> 1851726

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

A L George¹, D H Ledbetter, R G Kallen, R L Barchi.

Abstract

Entities: Gene Species

Mesh：

Substances：

Year: 1991 PMID： 1851726 DOI： 10.1016/0888-7543(91)90425-e

Source DB: PubMed Journal: Genomics ISSN： 0888-7543 Impact factor: 5.736

Keyword Cloud
Cited

× No keyword cloud information.

17 in total

1. Primary structure, chromosomal localization, and functional expression of a voltage-gated sodium channel from human brain.

Authors: C M Ahmed; D H Ware; S C Lee; C D Patten; A V Ferrer-Montiel; A F Schinder; J D McPherson; C B Wagner-McPherson; J J Wasmuth; G A Evans
Journal: Proc Natl Acad Sci U S A Date: 1992-09-01 Impact factor: 11.205

Review 2. Mouse chromosome 11.

Authors: A M Buchberg; M S Buckwalter; S A Camper
Journal: Mamm Genome Date: 1992 Impact factor: 2.957

3. Primary structure and functional expression of the human cardiac tetrodotoxin-insensitive voltage-dependent sodium channel.

Authors: M E Gellens; A L George; L Q Chen; M Chahine; R Horn; R L Barchi; R G Kallen
Journal: Proc Natl Acad Sci U S A Date: 1992-01-15 Impact factor: 11.205

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

Authors: M C Koch; K Ricker; M Otto; T Grimm; K Bender; B Zoll; P S Harper; F Lehmann-Horn; R Rüdel; E P Hoffman
Journal: Hum Genet Date: 1991-11 Impact factor: 4.132

5. Phenotypic variation of a Thr704Met mutation in skeletal sodium channel gene in a family with paralysis periodica paramyotonica.

Authors: J Kim; Y Hahn; E H Sohn; Y J Lee; J H Yun; J M Kim; J H Chung
Journal: J Neurol Neurosurg Psychiatry Date: 2001-05 Impact factor: 10.154

6. Phenotypic variation of Val1589Met mutation in a four-generation Chinese pedigree with mild paramyotonia congenitia: case report.

Authors: Changshui Xu; Junjia Qi; Yingying Shi; Yan Feng; Weizhou Zang; Jiewen Zhang
Journal: Int J Clin Exp Pathol Date: 2015-01-01

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

1. Primary structure, chromosomal localization, and functional expression of a voltage-gated sodium channel from human brain.

Review 2. Mouse chromosome 11.

3. Primary structure and functional expression of the human cardiac tetrodotoxin-insensitive voltage-dependent sodium channel.

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

5. Phenotypic variation of a Thr704Met mutation in skeletal sodium channel gene in a family with paralysis periodica paramyotonica.

6. Phenotypic variation of Val1589Met mutation in a four-generation Chinese pedigree with mild paramyotonia congenitia: case report.

Review 7. Structure, function and expression of voltage-dependent sodium channels.

8. The alpha-subunit of the skeletal muscle sodium channel is encoded proximal to Tk-1 on mouse chromosome 11.

Review 9. The tetrodotoxin binding site is within the outer vestibule of the sodium channel.

10. Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy.