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Volumn 255, Issue 6, 2008, Pages 853-857
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Highly skewed inactivation of the wild-type X-chromosome in asymptomatic female carriers of spinal and bulbar muscular atrophy (Kennedy's disease)
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Author keywords
Chromosome X inactivation; Clinical phenotype; DNA methylation; Female carriers
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Indexed keywords
ANDROGEN RECEPTOR;
ADULT;
AGED;
ALLELE;
ARTICLE;
CLINICAL ARTICLE;
CLINICAL FEATURE;
CONTROLLED STUDY;
DISEASE CARRIER;
ELECTROMYOGRAM;
ELECTROPHYSIOLOGY;
EXON;
FAMILY HISTORY;
FEMALE;
GENE MUTATION;
GENETIC ANALYSIS;
HUMAN;
KENNEDY DISEASE;
MALE;
METHYLATION;
PRIORITY JOURNAL;
WILD TYPE;
X CHROMOSOME;
ADOLESCENT;
ADULT;
AGE FACTORS;
AGED;
AGED, 80 AND OVER;
CREATINE KINASE;
DNA METHYLATION;
DNA MUTATIONAL ANALYSIS;
FEMALE;
GENETIC PREDISPOSITION TO DISEASE;
GENETIC SCREENING;
GENOTYPE;
HETEROZYGOTE;
HUMANS;
HYPERLIPIDEMIAS;
MALE;
MIDDLE AGED;
MUSCLE WEAKNESS;
MUSCULAR ATROPHY, SPINAL;
MUTATION;
PEDIGREE;
SEX CHARACTERISTICS;
SEX FACTORS;
X CHROMOSOME INACTIVATION;
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EID: 50049124437
PISSN: 03405354
EISSN: 14321459
Source Type: Journal
DOI: 10.1007/s00415-008-0766-1 Document Type: Article |
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Times cited : (6)
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References (14)
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