换一批Novel deletion of exon 3 in TYR gene causing Oculocutaneous albinism 1B in an Indian family along with intellectual disability associated with chromosomal copy number variations.
第一作者：
Somprakash,Dhangar
第一单位：
Department of Cytogenetics, National Institute of Immunohaematology (ICMR), 13th floor, new multistoried building, K.E.M Hospital campus, Parel, Mumbai, 400012, India.
作者：
医学主题词
白化病, 眼皮肤(Albinism, Oculocutaneous);儿童(Child);DNA拷贝数变异(DNA Copy Number Variations);外显子(Exons);女(雌)性(Female);纯合子(Homozygote);人类(Humans);男(雄)性(Male);一元酚单氧酶(Monophenol Monooxygenase);突变(Mutation);系谱(Pedigree);序列缺失(Sequence Deletion)
DOI
10.1186/s12920-021-01152-1
PMID
34980106
发布时间
2022-05-31
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