OMIM/301000[Secondary Source ID] - Search Results

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WHIM syndrome: a genetic disorder of leukocyte trafficking.

Gulino AV. Gulino AV. Curr Opin Allergy Clin Immunol. 2003 Dec;3(6):443-50. doi: 10.1097/00130832-200312000-00005. Curr Opin Allergy Clin Immunol. 2003. PMID: 14612668 Review.

Two novel mutations identified in the Wiskott-Aldrich syndrome protein gene cause Wiskott-Aldrich syndrome and thrombocytopenia.

Andreu N, Matamoros N, Escudero A, Fillat C. Andreu N, et al. Int J Mol Med. 2007 May;19(5):777-82. Int J Mol Med. 2007. PMID: 17390083

A second-site mutation in the initiation codon of WAS (WASP) results in expansion of subsets of lymphocytes in an Wiskott-Aldrich syndrome patient.

Du W, Kumaki S, Uchiyama T, Yachie A, Yeng Looi C, Kawai S, Minegishi M, Ramesh N, Geha RS, Sasahara Y, Tsuchiya S. Du W, et al. Hum Mutat. 2006 Apr;27(4):370-5. doi: 10.1002/humu.20308. Hum Mutat. 2006. PMID: 16511828

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