Výsledky vyhledávání - "Eyal Grunenbaum"

Combined de-novo mutation and non-random X-chromosome inactivation causing Wiskott-Aldrich syndrome in a female with thrombocytopenia

Autor: Victor S. Blanchette, Boonchai Boonyawat, Josef T. Prchal, Leslie Steele, Sabina Swierczek, Fahad al Abbas, Eyal Grunenbaum, Chaim M. Roifman, Qili Zhu, Yigal Dror, Bozana Zlateska, Hans D. Ochs, Troy R. Torgerson, Stephen Meyn, Stephen W. Scherer, Santhosh Dhanraj

Publikováno v: Journal of clinical immunology. 33(7)

Disorders linked to mutations in the X chromosomes typically affect males. The aim of the study is to decipher the mechanism of disease expression in a female patient with a heterozygous mutation on the X-chromosome.Clinical data was extracted from t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7996dd02f6df5012b240e7042981571
https://pubmed.ncbi.nlm.nih.gov/23943155

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