Evidence for linkage of the central core disease locus to the proximal long arm of human chromosome 19.
about
Central core diseaseInvestigation of muscle disease.Genetics and pathogenesis of malignant hyperthermia.RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes.Refined genetic localization for central core disease.Evidence for genetic heterogeneity of malignant hyperthermia susceptibility.The G1021A substitution in the RYR1 gene does not cosegregate with malignant hyperthermia susceptibility in a British pedigreeMissense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathyFunctional effects of central core disease mutations in the cytoplasmic region of the skeletal muscle ryanodine receptorNonspecific sarcolemmal cation channels are critical for the pathogenesis of malignant hyperthermia.A double mutation of the ryanodine receptor type 1 gene in a malignant hyperthermia family with multiminicore myopathyRole of ryanodine receptors.Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families
P2860
Q21202972-8E7D0261-1403-4B89-B286-C8AF28BDFCFAQ33735060-885BEC2E-C556-4952-ADE8-52233C916F5BQ33789806-0E6D7094-3257-4257-9E85-35B462D6AF1AQ34139686-B7B739F3-49D7-495C-A2F6-8C4E5E4584FFQ35194440-87076B0D-66B3-4DB9-8DE5-7AE98520F0AFQ35195427-5849843F-561E-4402-AE7F-091B783B72F7Q35238558-99A4FCE8-B256-4789-B5BD-CA26902EF6B1Q36275311-EA2F5BEA-E2FF-425E-9ED5-78E123F7FC9CQ36436381-602AAC2A-3803-451B-8485-93B797B6CBDAQ36615166-D27292E7-1326-40D3-899C-1DC05D5D385BQ37203321-3DED0EB1-393F-4043-8E8D-2DEB489767CEQ40655808-7D8A4958-A262-4095-BA6D-0B55C83C85F3Q58052145-5C5EFF55-46F7-4D9D-B385-FF60B28E6D8C
P2860
Evidence for linkage of the central core disease locus to the proximal long arm of human chromosome 19.
description
1991 nî lūn-bûn
@nan
1991年の論文
@ja
1991年学术文章
@wuu
1991年学术文章
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1991年学术文章
@zh-cn
1991年学术文章
@zh-hans
1991年学术文章
@zh-my
1991年学术文章
@zh-sg
1991年學術文章
@yue
1991年學術文章
@zh-hant
name
Evidence for linkage of the ce ...... ng arm of human chromosome 19.
@en
Evidence for linkage of the ce ...... ng arm of human chromosome 19.
@nl
type
label
Evidence for linkage of the ce ...... ng arm of human chromosome 19.
@en
Evidence for linkage of the ce ...... ng arm of human chromosome 19.
@nl
prefLabel
Evidence for linkage of the ce ...... ng arm of human chromosome 19.
@en
Evidence for linkage of the ce ...... ng arm of human chromosome 19.
@nl
P2093
P1433
P1476
Evidence for linkage of the ce ...... ng arm of human chromosome 19.
@en
P2093
P304
P356
10.1016/0888-7543(91)90461-M
P577
1991-07-01T00:00:00Z