Chediak–Higashi syndrome with early develop脾虚吃什么好
mental delay resulting from paternal heterodisomy of chromosome 1期刊名称： American Journal of Medic商代
al Genetics Part A
作者： Irini Manoli,Gretchen Golas,Wendy Westbroek,Thierry Vilboux,Thomas C.
Markello,Wendy Introne,Dawn Maynard,Ben Pederson,Ekaterini Tsilou,诚实守信作文
Michael B.
Jordan,P. Suzanne Hart,James G. White,William A. Gahl,Marjan Huizing
年份： 2010年
期号： 第6期
关键词： Retina;Chromosomes, Human, Pair
1;Lysosomes;Fibroblasts;Humans;Chediak-Higashi Syndrome;Aneuploidy;Codon, Nonn;Sequence Analysis, DNA;Exons
摘要：Chediak-Higashi syndrome (CHS) is a rare autosomal recessive dia characterized by varia
ble oculocutaneous albi给谁的一封信作文
nism, immunodeficiency, mild bleeding diathesis, and an accelerated lymphoproliferative state. Abnormal lysosome-related organelle酸菜馅饺子怎么调馅好吃
membrane function leads to the accumulation of large intracellular vesicles in veral cell types, including granulocytes, melanocytes, and platelets. This report describes a vere ca of CHS resulting from paternal heterodisomy of chromosome 1, causing homozygosity f全部动物
or the most distal nonn mutation (p.E3668X, exon 50) reported to date in the LYST/CHS1 gene. The mutation is located in the WD40 regi数学英语怎么读
on of the CHS1 protein. The patient's fibroblasts expresd no detectable CHS1. Besides manifesting the classical CHS findings, the patient exhibited hypotonia and global developmental delays,...
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