关键词: AUTOSOMAL RECESSIVE OSTEOPETROSIS HYPOMORPHIC MUTATION SPLICING DEFECT TCIRG1
Mesh : Alternative Splicing / genetics Base Sequence Child DNA Mutational Analysis Female Genes, Recessive Homozygote Humans Infant Infant, Newborn Molecular Sequence Data Mutation / genetics Osteopetrosis / diagnostic imaging genetics Radiography Vacuolar Proton-Translocating ATPases / genetics
来 源:
DOI:10.1002/jbmr.2203
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