The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins
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Title
The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins
Authors
Keywords
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Journal
JOURNAL OF HUMAN GENETICS
Volume -, Issue -, Pages -
Publisher
Springer Science and Business Media LLC
Online
2020-10-09
DOI
10.1038/s10038-020-00831-8
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- Nosology and classification of genetic skeletal disorders: 2019 revision
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- (2014) Matthew C. Walsh et al. Frontiers in Immunology
- Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis
- (2012) P. M. Campeau et al. HUMAN MOLECULAR GENETICS
- RANK-dependent autosomal recessive osteopetrosis: Characterization of five new cases with novel mutations
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- Human Osteoclast-Poor Osteopetrosis with Hypogammaglobulinemia due to TNFRSF11A (RANK) Mutations
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