Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q

Hyperekplexia, or startle disease (STHE), is an autosomal dominant neurologic disorder characterized by muscular rigidity of central nervous system origin, particularly in the neonatal period, and by an exaggerated startle response to sudden, unexpected acoustic or tactile stimuli. STHE responds dra...

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Veröffentlicht in:	American journal of human genetics 1992-12, Vol.51 (6), p.1334-1343
Hauptverfasser:	RYAN, S. G, DIXON, M. J, NIGRO, M. A, KELTS, A, MARKAND, O. N, TERRY, J. C, SHIANG, R, WASMUTH, J. J, O'CONNELL, P
Format:	Artikel
Sprache:	eng
Schlagworte:	AMINO ACIDS AMINOBUTYRIC ACID AUTONOMIC NERVOUS SYSTEM AGENTS Base Sequence BASIC BIOLOGICAL SCIENCES Biological and medical sciences BIOLOGICAL MARKERS CARBOXYLIC ACIDS Cell Line, Transformed CENTRAL NERVOUS SYSTEM chromosome 5 Chromosome Mapping CHROMOSOMES Chromosomes, Human, Pair 5 Clonazepam - therapeutic use DISEASES Diseases of striated muscles. Neuromuscular diseases DISTANCE DNA, Single-Stranded DRUGS Female GENES Genetic Linkage GENETIC MAPPING Haplotypes HUMAN CHROMOSOME 5 HUMAN CHROMOSOMES Humans hyperekplexia linkage analysis Male man MAPPING Medical sciences MEMBRANE PROTEINS Molecular Sequence Data NERVOUS SYSTEM NERVOUS SYSTEM DISEASES Neurology NEUROREGULATORS ORGANIC ACIDS ORGANIC COMPOUNDS ORIGIN Pedigree PROTEINS 550400 > Genetics RECEPTORS Receptors, GABA-A - drug effects Stiff-Person Syndrome - drug therapy Stiff-Person Syndrome - genetics STIMULI
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