Germline and somatic mosaicism in a female carrier of Hunter disease

Journal of Medical Genetics

Volumn 34, Issue 2, 1997, Pages 137-140

  Froissart, Roseline ^a   Maire, Irène ^a   Bonnet, Véronique ^a   Levade, Thierry ^b   Bozon, Dominique ^a  

^a HÔPITAL DEBROUSSE   (France)

^b CHU RANGUEIL   (France)

Author keywords

Mosaicism; Mucopolysaccharidosis type II; Mutation

Indexed keywords

ALLELE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; FIBROBLAST; GENE MUTATION; GENETIC COUNSELING; HAPLOTYPE; HETEROZYGOTE DETECTION; HUMAN; HUMAN CELL; HUNTER SYNDROME; LEUKOCYTE; LYMPHOBLASTOID CELL; LYMPHOCYTE; MALE; MOSAICISM; PRIORITY JOURNAL; SOMATIC CELL; X CHROMOSOME LINKAGE;

EID: 0031051185     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.2.137     Document Type: Article

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