Equal proportions of affected cells in muscle and blood of a mosaic carrier of facioscapulohumeral muscular dystrophy

Human Genetics

Volumn 119, Issue 1-2, 2006, Pages 23-28

  Tonini, Maria Manuela O ^a,c   Lemmers, Richard J L F ^b   Pavanello, Rita C M ^a   Cerqueira, Antonia M P ^a   Frants, Rune R ^b   van der Maarel, Silvere M ^b   Zatz, Mayana ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^c INSTITUT JACQUES MONOD   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ADULT; ALLELE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHROMOSOME 10Q; CHROMOSOME 4Q; CHROMOSOME MOSAICISM; CONTROLLED STUDY; DNA EXTRACTION; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; FEMALE; FIBROBLAST; GENE SEGREGATION; HUMAN; HUMAN CELL; HUMAN TISSUE; MITOSIS; MUSCLE BIOPSY; MUSCLE CELL; PERIPHERAL LYMPHOCYTE; PRIORITY JOURNAL; PULSED FIELD GEL ELECTROPHORESIS;

ALLELES; CHROMOSOMES, HUMAN, PAIR 4; DEOXYRIBONUCLEASE ECORI; DEOXYRIBONUCLEASE HINDIII; DNA; ELECTROPHORESIS, GEL, PULSED-FIELD; FAMILY HEALTH; FEMALE; FIBROBLASTS; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MOSAICISM; MUSCLES; MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL; PEDIGREE; REPETITIVE SEQUENCES, NUCLEIC ACID;

EID: 33644532236     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-005-0100-2     Document Type: Article

References (24)

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