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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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Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Froissart, R, Maire, I, Bonnet, V, Levade, T, Bozon, D
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 1997
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050868/
https://ncbi.nlm.nih.gov/pubmed/9039991
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