Novel CLCN7 mutation identified in a Han Chinese family with autosomal dominant osteopetrosis-2
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Title
Novel CLCN7 mutation identified in a Han Chinese family with autosomal dominant osteopetrosis-2
Authors
Keywords
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Journal
Molecular Pain
Volume 12, Issue -, Pages 174480691665262
Publisher
SAGE Publications
Online
2016-06-21
DOI
10.1177/1744806916652628
References
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Related references
Note: Only part of the references are listed.- Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis
- (2015) Eleonora Palagano et al. JOURNAL OF BONE AND MINERAL RESEARCH
- Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADO-II) and intermediate autosomal recessive osteopetrosis (IARO) in Chinese patients
- (2015) Q. Pang et al. OSTEOPOROSIS INTERNATIONAL
- Identification of a Novel MYO15A Mutation in a Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss
- (2015) Hong Xia et al. PLoS One
- Osteopetrosis and Its Relevance for the Discovery of New Functions Associated with the Skeleton
- (2015) Amélie E. Coudert et al. International Journal of Endocrinology
- Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita
- (2015) Xiangjun Huang et al. PLoS One
- The A242T Mutation in the Low-density Lipoprotein Receptor-related Protein 5 Gene in One Chinese Family with Osteosclerosis
- (2014) Chun Wang et al. INTERNAL MEDICINE
- Identification of TCIRG1 and CLCN7 gene mutations in a patient with autosomal recessive osteopetrosis
- (2014) TINGTING YU et al. Molecular Medicine Reports
- Mutant Cohesin in Premature Ovarian Failure
- (2014) Sandrine Caburet et al. NEW ENGLAND JOURNAL OF MEDICINE
- A Fatal Case of Infantile Malignant Osteopetrosis Complicated by Pulmonary Arterial Hypertension after Hematopoietic Stem Cell Transplantation
- (2014) Yuichi Kuroyanagi et al. TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE
- A NovelCOL4A5Mutation Identified in a Chinese Han Family Using Exome Sequencing
- (2014) Xiaofei Xiu et al. Biomed Research International
- Generation of the first autosomal dominant osteopetrosis type II (ADO2) disease models
- (2013) Imranul Alam et al. BONE
- Genetics in Endocrinology: Autosomal dominant osteopetrosis revisited: lessons from recent studies
- (2013) Jens Bollerslev et al. EUROPEAN JOURNAL OF ENDOCRINOLOGY
- Skeletal dysplasias with increased bone density: Evolution of molecular pathogenesis in the last century
- (2013) Shagun Aggarwal GENE
- Identification of two novel CLCN7 gene mutations in three Chinese families with autosomal dominant osteopetrosis type II
- (2013) Hui Zheng et al. JOINT BONE SPINE
- A case of autosomal dominant osteopetrosis type II with a novel TCIRG1 gene mutation
- (2013) Keiko Wada et al. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
- Osteopetrosis: genetics, treatment and new insights into osteoclast function
- (2013) Cristina Sobacchi et al. Nature Reviews Endocrinology
- The virulence gene and clinical phenotypes of osteopetrosis in the Chinese population: six novel mutations of the CLCN7 gene in twelve osteopetrosis families
- (2011) Chun Wang et al. JOURNAL OF BONE AND MINERAL METABOLISM
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations
- (2009) Alessandra Pangrazio et al. HUMAN MUTATION
- Osteopetrosis
- (2009) Zornitza Stark et al. Orphanet Journal of Rare Diseases
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