关键词: Autosomal recessive osteopetrosis Dysosteosclerosis Next generation sequencing Platyspondyly SLC29A3 TCIRG1
Mesh : Amino Acid Sequence Bone Diseases, Developmental / diagnostic imaging genetics Child Child, Preschool DNA Mutational Analysis Female Humans Male Mutation / genetics Nucleoside Transport Proteins / chemistry genetics Osteopetrosis / genetics Osteosclerosis / diagnostic imaging genetics Pedigree Phenotype Vacuolar Proton-Translocating ATPases / chemistry genetics Young Adult
来 源:
DOI:10.1016/j.bone.2018.12.002
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