
Rapid gene identification in a Chinese osteopetrosis family by whole exome sequencing
Keywords: ADO, autosomal-dominant osteopetrosis; ALP, alkaline phosphatase; ARO, autosomal-recessive osteopetrosis; C, cystine; CA2, carbonic anhydrase II; ClC-b-RA, chloride channel-b; CLC, chloride channel; ClC-7, chloride channel 7 alpha subunit; CLCN7, chloride