A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis

Journal of Clinical Investigation

Volumn 117, Issue 9, 2007, Pages 2684-2691

  Ichikawa, Shoji ^a   Imel, Erik A ^a   Kreiter, Mary L ^b,c   Yu, Xijie ^a   Mackenzie, Donald S ^a   Sorenson, Andrea H ^a   Goetz, Regina ^d   Mohammadi, Moosa ^d   White, Kenneth E ^a   Econs, Michael J ^a  

^a INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b CHILDREN'S MEMORIAL HOSPITAL   (United States)

^c NORTHWESTERN UNIVERSITY   (United States)

^d NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; FIBROBLAST GROWTH FACTOR 23; FIBROBLAST GROWTH FACTOR RECEPTOR; HISTIDINE; PARATHYROID HORMONE; SEVELAMER; THIOGLUCOSIDASE; VITAMIN D;

ADOLESCENT; ARTICLE; CALCIUM HOMEOSTASIS; CASE REPORT; CLINICAL FEATURE; CRYSTAL STRUCTURE; DISEASE SEVERITY; FEMALE; GENE; GENE MAPPING; HOMOZYGOSITY; HUMAN; HYPERCALCEMIA; HYPERPHOSPHATEMIA; KLOTHO GENE; LABORATORY TEST; MISSENSE MUTATION; PRIORITY JOURNAL; TUMOR CALCINOSIS;

ADOLESCENT; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CALCINOSIS; CELL LINE; CRYSTALLOGRAPHY, X-RAY; FEMALE; FIBROBLAST GROWTH FACTORS; GLUCURONIDASE; HOMOZYGOTE; HUMANS; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NEOPLASMS; PROTEIN BINDING; PROTEIN STRUCTURE, TERTIARY; SEQUENCE ALIGNMENT; SIGNAL TRANSDUCTION; STRUCTURAL HOMOLOGY, PROTEIN;

EID: 34848871595     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI31330     Document Type: Article

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