Multipoint mapping of the central core disease locus.
Genomics
; 17(1): 205-7, 1993 Jul.
Article
em En
| MEDLINE
| ID: mdl-8406450
ABSTRACT
A linkage analysis with 12 DNA markers from proximal 19q was performed in eight families with central core disease (CCO). Two-point analysis gave a peak lod score of Z = 4.95 at theta = 0.00 for the anonymous marker D19S190 and of Z = 2.53 at theta = 0.00 for the ryanodine receptor (RYR1) candidate gene. Multipoint linkage data place the CCO locus at 19q13.1, flanked proximally by D19S191/D19S28 and distally by D19S47. This map location includes the RYR1 gene. The results of the linkage study present no evidence for genetic heterogeneity of CCO.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 19
/
Canais de Cálcio
/
Hipertermia Maligna
/
Proteínas Musculares
/
Doenças Musculares
Tipo de estudo:
Prognostic_studies
Limite:
Animals
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Female
/
Humans
/
Male
Idioma:
En
Revista:
Genomics
Assunto da revista:
GENETICA
Ano de publicação:
1993
Tipo de documento:
Article
País de afiliação:
Alemanha