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Genetic Analysis of CLCN7 in an Old Female Patient with Type II Autosomal Dominant Osteopetrosis
Seon Young Kim, Younghak Lee, Yea Eun Kang, Ji Min Kim, Kyong Hye Joung, Ju Hee Lee, Koon Soon Kim, Hyun Jin Kim, Bon Jeong Ku, Minho Shong, Hyon-Seung Yi
Endocrinol Metab. 2018;33(3):380-386.   Published online September 18, 2018
DOI: https://doi.org/10.3803/EnM.2018.33.3.380

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Genetic Analysis of CLCN7 in an Old Female Patient with Type II Autosomal Dominant Osteopetrosis
Endocrinology and Metabolism. 2018;33(3):380   Crossref logo
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Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADO-II) and intermediate autosomal recessive osteopetrosis (IARO) in Chinese patients
Osteoporosis International. 2015;27(3):1047-1055   Crossref logo
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Transcriptome analysis reveals potential biomarkers of CLCN7-dependent Autosomal Dominant Osteopetrosis Type 2 (ADO2)
Bone Reports. 2020;13:100657   Crossref logo
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Effective Small Interfering RNA Therapy to Treat CLCN7-dependent Autosomal Dominant Osteopetrosis Type 2
Molecular Therapy - Nucleic Acids. 2015;4:e248   Crossref logo
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Type II autosomal dominant osteopetrosis
Rheumatology International. 2002;22(3):116-118   Crossref logo
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Slipped capital femoral epiphysis in a patient with type II autosomal dominant osteopetrosis
Skeletal Radiology. 1998;27(9):515-517   Crossref logo
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Insertion of the clcn7 gene mutation pG213R in mouse induces autosomal dominant osteopetrosis type II (ADO2)
Bone. 2012;51(6):S14   Crossref logo
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Identification of two novel CLCN7 gene mutations in three Chinese families with autosomal dominant osteopetrosis type II
Joint Bone Spine. 2014;81(2):188-189   Crossref logo
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Enhanced but hypofunctional osteoclastogenesis in an autosomal dominant osteopetrosis type II case carrying a c.1856C>T mutation in CLCN7
Bone Research. 2016;4(1):   Crossref logo
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Chloride Channel 7 (ClCN7) Gene Mutations and Autosomal Dominant Osteopetrosis, Type II
Journal of Bone and Mineral Research. 2003;18(8):1513-1518   Crossref logo
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