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Germline and somatic mosaicism in a female carrier of Hunter disease.
Carrier detection in a mucopolysaccharidosis type II family (Hunter disease) allowed the identification of germline and somatic mosaicism in the patient's mother: the R443X mutation was found in a varying proportion in tested tissue (7% in leucocytes, lymphocytes, and lymphoblastoid cells, and...
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Main Authors: | , , , , |
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Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
1997
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1050868/ https://ncbi.nlm.nih.gov/pubmed/9039991 |
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