Determination of the deletion breakpoints in two patients with contiguous gene syndrome encompassing CYBB gene.
第一作者:
Masafumi,Yamada
第一单位:
Department of Pediatrics, Hokkaido University Graduate School of Medicine, North 15 West 7, Kita-ku Sapporo 060-8638, Japan. yamadam@med.hokudai.ac.jp
作者:
主题词
儿童(Child);染色体缺失(Chromosome Deletion);比较基因组杂交(Comparative Genomic Hybridization);基因缺失(Gene Deletion);肉芽肿病, 慢性(Granulomatous Disease, Chronic);人类(Humans);男(雄)性(Male);膜糖蛋白类(Membrane Glycoproteins);片段重复, 基因(Segmental Duplications, Genomic);青年人(Young Adult)
DOI
10.1016/j.ejmg.2010.08.003
PMID
20813210
发布时间
2017-11-16
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