X-chromosome methylation in manifesting and healthy carriers of dystrophinopathies: concordance of activation ratios among first degree female relatives and skewed inactivation as cause of the affected phenotypes

Human Genetics

Volumn 96, Issue 2, 1995, Pages 167-176

  Azofeifa, Jorge ^a   Voit, Thomas ^b   Hübner, Christoph ^c   Cremer, Marion ^a  

^a UNIVERSITY OF HEIDELBERG   (Germany)

^b Universitätskinderklinik Düsseldorf   (Germany)

^c CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

DNA MARKER; DYSTROPHIN;

ALLELE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA METHYLATION; DNA PROBE; DUCHENNE MUSCULAR DYSTROPHY; DYSTROPHY; FEMALE; GENE ACTIVATION; HETEROZYGOTE; HUMAN; HUMAN TISSUE; KARYOTYPE; MALE; PERIPHERAL LYMPHOCYTE; PHENOTYPE; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; X CHROMOSOME;

CASE REPORT; CHILD; DATA INTERPRETATION, STATISTICAL; DNA; DOSAGE COMPENSATION (GENETICS); DYSTROPHIN; FEMALE; HETEROZYGOTE; HUMAN; INFANT; MALE; METHYLATION; MUSCULAR DYSTROPHIES; PEDIGREE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; SUPPORT, NON-U.S. GOV'T; X CHROMOSOME;

EID: 0029051456     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/BF00207374     Document Type: Article

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