Calcification of joints and arteries: Second report with novel NT5E mutations and expansion of the phenotype

Journal of Human Genetics

Volumn 60, Issue 10, 2015, Pages 561-564

  Zhang, Zeng ^a   He, Jin Wei ^a   Fu, Wen Zhen ^a   Zhang, Chang Qing ^a   Zhang, Zhen Lin ^a  

^a SHANGHAI JIAO TONG UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

5' NUCLEOTIDASE; GLYCOSYLPHOSPHATIDYLINOSITOL ANCHORED PROTEIN; NT5E PROTEIN, HUMAN;

ADULT; ARTERY CALCIFICATION; ARTHRALGIA; ARTHROPATHY; ARTICLE; BETA SHEET; BONE DENSITY; CALCIFICATION OF JOINT AND ARTERY; CASE REPORT; CHINESE; CLINICAL FEATURE; CONTROLLED STUDY; CRYSTAL STRUCTURE; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENETIC COUNSELING; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HUMAN; JOINT CAPSULE; MALE; MISSENSE MUTATION; MOLECULAR MODEL; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PROTEIN STRUCTURE; RADIOGRAPHY; THORAX RADIOGRAPHY; AMINO ACID SUBSTITUTION; ANIMAL; BLOOD VESSEL CALCIFICATION; CLINICAL TRIAL; GENETICS; PROTEIN SECONDARY STRUCTURE; PROTEIN STABILITY;

5'-NUCLEOTIDASE; AMINO ACID SUBSTITUTION; ANIMALS; FEMALE; GPI-LINKED PROTEINS; HUMANS; JOINT DISEASES; MALE; MUTATION, MISSENSE; PROTEIN STABILITY; PROTEIN STRUCTURE, SECONDARY; VASCULAR CALCIFICATION;

EID: 84945268908     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2015.85     Document Type: Article

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