Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children.
第一作者:
Cristina,Cuoco
第一单位:
Laboratorio di Citogenetica, Istituto G. Gaslini, 16147 Genova, Italy.
作者:
医学主题词
细胞黏附分子(Cell Adhesion Molecules);儿童(Child);染色体缺失(Chromosome Deletion);染色体图(Chromosome Mapping);染色体, 人, 3对(Chromosomes, Human, Pair 3);父亲(Fathers);生长障碍(Growth Disorders);人类(Humans);原位杂交, 荧光(In Situ Hybridization, Fluorescence);核型分析(Karyotyping);男(雄)性(Male);膜蛋白质类(Membrane Proteins);小头畸形(Microcephaly);寡核苷酸序列分析(Oligonucleotide Array Sequence Analysis);表型(Phenotype);同胞(Siblings)
DOI
10.1186/1750-1172-6-12
PMID
21457564
发布时间
2022-04-08
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