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Journal Article
JOURNAL OF BONE AND MINERAL RESEARCH, ISSN 0884-0431, 06/2016, Volume 31, Issue 6, pp. 1207 - 1214
Autosomal dominant hypocalcemia (ADH) is characterized by hypocalcemia, inappropriately low serum parathyroid hormone concentrations and hypercalciuria. ADH is... 
ACTIVATION | COMPLEX | MOUSE | DISORDERS | G-PROTEIN | KERATOCONUS | HYPERCALCIURIA | CALCIUM-SENSING RECEPTOR | GENE | WHOLE-EXOME SEQUENCING | HYPOPARATHYROIDISM | GNA11 | CALCIUM | ENDOCRINOLOGY & METABOLISM | TGFBI | Proteins | Genetic aspects | Cellular signal transduction | Parathyroid hormone | Hypocalcemia | Protein binding
Journal Article
Biochemistry, ISSN 0006-2960, 12/2017, Volume 56, Issue 49, pp. 6470 - 6480
Mutations in the transforming growth factor beta-induced protein (TGFBIp) cause phenotypically diverse corneal dystrophies, where protein aggregation in the... 
ISOASPARTATE FORMATION | PEPTIDES | AMYLOID FORMATION | BETA-IG-H3 | ALZHEIMERS-DISEASE | STABILITY | BIOCHEMISTRY & MOLECULAR BIOLOGY | PURIFICATION | MOLECULAR CLOCKS | TGFBI GENE | LATTICE | Nuclear magnetic resonance spectroscopy | Amides | Usage | Liquid chromatography | Chemical properties | Index Medicus
Journal Article
Human Mutation, ISSN 1059-7794, 06/2019, Volume 40, Issue 6, pp. 675 - 693
Journal Article
Graefe's Archive for Clinical and Experimental Ophthalmology, ISSN 0721-832X, 9/2017, Volume 255, Issue 9, pp. 1779 - 1786
This study is to summarize the concurrent keratoconus (KC) and granular corneal dystrophy (GCD) phenotype and identify the underlying genetic cause in a... 
Medicine & Public Health | Granular corneal dystrophy | Keratoconus | KRT12 | Chinese | Ophthalmology | TGFBI | EYES | GENE | BETA-IG-H3 | OPHTHALMOLOGY | CHINESE FAMILY | Codon | Analysis | Genetic aspects | Nucleotide sequencing | DNA sequencing | Cornea | Missense mutation | Nonsense mutation | Corneal dystrophy | Mutation | Dystrophy | Index Medicus
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2017, Volume 7, Issue 1, pp. 13570 - 10
Keratoconus (KC) is a common degenerative corneal disease, and heredity plays a key role in its development. Although few genes are known to cause KC, a large... 
GENE | MULTIDISCIPLINARY SCIENCES | PROTEINASES | TGFBI | AUTOSOMAL-DOMINANT KERATOCONUS | LINKAGE | LOCUS | Oxidative stress | Cornea | Pedigree | Keratoconus | Genes | Mutation | Twins | Index Medicus
Journal Article
Human Mutation, ISSN 1059-7794, 07/2006, Volume 27, Issue 7, pp. 615 - 625
Journal Article
Journal Article
Journal Article
Chinese Journal of Medical Genetics, ISSN 1003-9406, 08/2018, Volume 35, Issue 4, pp. 518 - 521
Journal Article
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, ISSN 1003-9406, 10/2018, Volume 35, Issue 5, pp. 672 - 674
Journal Article
Chinese Journal of Medical Genetics, ISSN 1003-9406, 10/2017, Volume 34, Issue 5, pp. 629 - 632
Journal Article
Experimental Eye Research, ISSN 0014-4835, 03/2012, Volume 96, Issue 1, pp. 163 - 170
Journal Article