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Article

Phenotypic and genotypic correction of WASP gene mutation in Wiskott-Aldrich syndrome by unrelated cord blood stem cell transplantation.

Journal of Korean medical science - 1 Aug 2009

Lee Young-Ho, Lim Yeon-Jung, Shin Su-Ah, Song Chang-Hwa, Jo Eun-Kyeong, Jung Jin-A, Lee Ha-Baik

Abstract excerpt

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 received unrelated CBSCT at 16-month and 20-month of age, respectively. The infused cord blood (CB) units had 4/6...

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Identifiers

PMID: 19654965
DOI: 10.3346/jkms.2009.24.4.751
PMCID: PMC2719213

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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