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Skeletal dysplasias with increased bone density: Evolution of molecular pathogenesis in the last century

Authors:	Shagun Aggarwal

Institution:	Department of Medical Genetics, Nizam''s Institute of Medical Sciences and Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad 500082, India

Abstract:

Keywords:	TCIRG1 T-cell immune regulator 1 ATPase H⁺ transporting lysosomal V0 subunit A3 [Homo sapiens] SLC29A3 solute carrier family 29 (nucleoside transporters) member 3 [Homo sapiens] SOST sclerostin [Homo sapiens] LRP5 low density lipoprotein receptor-related protein 5 [Homo sapiens] RANKL receptor activator of nuclear factor kappa B ligand [Homo Sapiens] CA2 carbonic anhydrase II [Homo sapiens] CLCN7 chloride channel voltage-sensitive 7 [Homo sapiens] OSTM1 osteopetrosis associated transmembrane protein 1 [Homo sapiens] PLEKHM1 pleckstrin homology domain containing family M (with RUN domain) member 1 [Homo sapiens] FERMT3 fermitin family member 3 [Homo sapiens] RANK receptor activator of NF-KB [Homo Sapiens] NEMO NF-kappa-B essential modulator [Homo sapiens] SNX10 sorting nexin 10 [Homo sapiens] ANKH ankylosis progressive homolog (mouse) [Homo sapiens] TGFB1 transforming growth factor beta 1 [Homo sapiens] WTX Wilms tumor gene on the X chromosome protein [Homo sapiens] LEMD3 LEM domain containing 3 [Homo sapiens] AD Autosomal dominant AR Autosomal recessive SKD Skeletal dysplasia
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