Two novel CHS1 (LYST) mutations: Clinical correlations in an infant with Chediak–Higashi syndrome

Author:

Zarzour Wafika,Kleta Robert,Frangoul Haydar,Suwannarat Pim,Jeong Anna,Kim Su Young,Wayne Alan S.,Gunay-Aygun Meral,White James,Filipovich Alexandra H.,Gahl William A.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference37 articles.

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2. Congenital gigantism of peroxidase granules;Higashi;Tohoku J. Exp. Med.,1954

3. Clinical, molecular, and cell biological aspects of Chediak–Higashi syndrome;Introne;Mol. Genet. Metab.,1999

4. Chediak–Higashi syndrome;Spritz,1999

5. R.A. King, V.J. Hearing, D.J. Creel, W.S. Oetting, Albinism, in: C.R. Scriver, A.L. Beaudet, D.L. Valle, W.S. Sly (Eds.), The Metabolic and Molecular Bases of Inherited Disease, eighth ed., vol. 4, McGraw-Hill, New York, 2001, pp. 5587–5627

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