期刊
HUMAN GENOME VARIATION
卷 4, 期 -, 页码 -出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/hgv.2017.36
关键词
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资金
- Japan Society for the Promotion of Science [16K15618, 15K19620, 26861783]
- Japan Agency for Medical Research and Development [16kk0205012h001, 16ek0109151h002]
Osteopetrosis is a heritable disorder of the skeleton that is characterized by increased bone density on radiographs caused by defects in osteoclast formation and function. Mutations in >10 genes are identified as causative for this clinically and genetically heterogeneous disease in humans. We report two novel missense variations in a compound heterozygous state in the CLCN7 gene, detected through targeted exome sequencing, in a 15-year-old Japanese female with intermediate autosomal recessive osteopetrosis.
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