Deufel, T

Discordance, in a malignant hyperthermia pedigree, between in vitro contracture-test phenotypes and haplotypes for the MHS1 region on chromosome 19q12-13.2, comprising the C1840T transition in the RYR1 gene. [electronic resource] - American journal of human genetics Jun 1995 - 1334-42 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

0002-9297


Calcium Channels--genetics
Chromosomes, Human, Pair 19--genetics
Contracture--chemically induced
Disease Susceptibility
Female
Genetic Linkage
Genetic Markers
Germany--epidemiology
Halothane--pharmacology
Haplotypes
Humans
Male
Malignant Hyperthermia--genetics
Models, Genetic
Muscle Proteins--genetics
Pedigree
Phenotype
Ryanodine--metabolism
Ryanodine Receptor Calcium Release Channel