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Phenotypic and Genotypic Correction of WASP Gene Mutation in Wiskott-Aldrich Syndrome by Unrelated Cord Blood Stem Cell Transplantation

We present two cases of Wiskott-Aldrich syndrome (WAS), in which nonsense mutations in the WASP gene were corrected phenotypically as well as genotypically by unrelated cord blood stem cell transplantation (CBSCT). Two male patients were diagnosed with WAS at the age of 5-month and 3-month and each...

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Detalles Bibliográficos
Autores principales: Lee, Young-Ho, Lim, Yeon-Jung, Shin, Su-Ah, Song, Chang-Hwa, Jo, Eun-Kyeong, Jung, Jin-A, Lee, Ha-Baik
Formato: Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2719213/
https://www.ncbi.nlm.nih.gov/pubmed/19654965
http://dx.doi.org/10.3346/jkms.2009.24.4.751