Clinical characteristics and outcomes of chédiak-Higashi syndrome: A nationwide survey of Japan

Author:

Nagai Kozo1,Ochi Fumihiro1,Terui Kiminori2,Maeda Miho3,Ohga Shouichi3,Kanegane Hirokazu3,Kitoh Toshiyuki3,Kogawa Kazuhiro3,Suzuki Nobuhiro3,Ohta Shigeru3,Ishida Yasushi3,Okamura Takayuki3,Wakiguchi Hiroshi3,Yasukawa Masaki4,Ishii Eiichi1

Affiliation:

1. Department of Pediatrics; Ehime University Graduate School of Medicine; Toon Japan

2. Department of Pediatrics; Hirosaki University; Hirosaki Japan

3. Histiocytosis Committee of the Japanese Society of Pediatric Hematology and Oncology; Tokyo Japan

4. Bioregulatory Medicine; Ehime University Graduate School of Medicine; Toon Japan

Funder

Grant-in-Aid for Scientific Research from the Ministry of Health and Labor

Grant-in-Aid for Cancer Research from the Ministry of Health and Labor

Ministry of Education, Culture, Sports, Science and Technology, Japan

Publisher

Wiley

Subject

Oncology,Hematology,Pediatrics, Perinatology and Child Health

Reference19 articles.

1. Identification and mutation analysis of the complete gene for Chédiak-Higashi syndrome;Nagle;Nat Genet,1996

2. Identification of the homologous beige and Chediak-Higashi syndrome genes;Barbosa;Nature,1996

3. Melanosomes are specialized members of the lysosomal lineage of organelles;Orlow;J Invest Dermatol,1995

4. 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

5. The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins;Tchernev;Mol Med,2002

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