A novel single point mutation of the LYST gene in two siblings with different phenotypic features of Chediak Higashi syndrome

Author:

Kaya Zuhre,Ehl Stephan,Albayrak Meryem,Maul-Pavicic Andrea,Schwarz Klaus,Kocak Ulker,Ergun Mehmet Ali,Gursel Turkiz

Publisher

Wiley

Subject

Oncology,Hematology,Pediatrics, Perinatology and Child Health

Reference20 articles.

1. Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse;Barbosa;Hum Mol Genet,1997

2. Homozygosity mapping of the gene for Chediak Higashi syndrome to chromosome 1q42-q44 in a segment of conserved synteny that includes the mouse beige locus (bg);Fukai;Am J Hum Genet,1996

3. Identification and mutation analysis of the complete gene for Chediak Higashi syndrome;Nagle;Nat Genet,1996

4. The beige/Chediak Higashi syndrome gene encodes a widely expressed cytosolic protein;Perou;J Biol Chem,1997

5. Genetic and physical mapping of the Chediak Higashi syndrome on chromosome 1q 42-43;Barrat;Am J Hum Genet,1996

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