Two novel mutations of CLCN7 gene in Chinese families with autosomal dominant osteopetrosis (type II)

Rapid gene identification in a Chinese osteopetrosis family by whole exome sequencing

(2013) Weiguo Sui et al.   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

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

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations

(2009) Alessandra Pangrazio et al.   HUMAN MUTATION

Identification of the CLCN7 gene mutations in two Chinese families with autosomal dominant osteopetrosis (type II)

(2009) Zhen-Lin Zhang et al.   JOURNAL OF BONE AND MINERAL METABOLISM