A translocation causing increased α-Klotho level results in hypophosphatemic rickets and hyperparathyroidism

Proceedings of the National Academy of Sciences of the United States of America

Volumn 105, Issue 9, 2008, Pages 3455-3460

  Brownstein, Catherine A ^a   Adler, Felix ^a   Nelson Williams, Carol ^a   Iijima, Junko ^b,c   Li, Peining ^a   Imura, Akihiro ^b,c   Nabeshima, Yo Ichi ^b,c   Reyes Mugica, Miguel ^a   Carpenter, Thomas O ^a   Lifton, Richard P ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b KYOTO UNIVERSITY   (Japan)

^c JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

Author keywords

Bone; Endocrinology; Genetics; Phosphorus

Indexed keywords

BETA GLUCURONIDASE; FIBROBLAST GROWTH FACTOR; FIBROBLAST GROWTH FACTOR 23; KLOTHO PROTEIN; PHOSPHATE; PROTEIN ALPHA KLOTHO;

AGING; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 13; CHROMOSOME 13Q; CHROMOSOME 9Q; CHROMOSOME ANALYSIS; CHROMOSOME MAP; CHROMOSOME TRANSLOCATION; CONTROLLED STUDY; ENDOCRINE SURGERY; ENZYME ACTIVITY; FEMALE; HUMAN; HYPERPARATHYROIDISM; HYPOPHOSPHATEMIC RICKETS; KIDNEY FAILURE; PARATHYROID HYPERPLASIA; PRIORITY JOURNAL; RENAL OSTEODYSTROPHY; SKELETON MALFORMATION; BLOOD; GENE TRANSLOCATION; GENETICS; HYPOPHOSPHATEMIA; INFANT; PARATHYROID DISEASE; RICKETS; SYNDROME;

FEMALE; GLUCURONIDASE; HUMANS; HYPERPARATHYROIDISM; HYPOPHOSPHATEMIA; INFANT; PARATHYROID DISEASES; RICKETS; SYNDROME; TRANSLOCATION, GENETIC;

EID: 42149130855     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.0712361105     Document Type: Article

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