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[GNAS1 gene abnormality in pseudohypoparathyroidism I a].
Clin Calcium. 2007 Aug; 17(8):1214-9.CC

Abstract

Pseudophypoparathyroidism (PHP) is characterized by hypocalcemia, hyperphosphatemia and elevated levels of parathyroid hormone (PTH) due to resistance to PTH. PHP type I a is caused by heterozygous inactivating mutation of the GNAS1 gene, which encodes signal transducer, Gsalpha. PHP type I a is associated with Albright's osteodystrophy (AHO). Those patients who have AHO phenotype without hormone resistance are affected by pseudopseudohypoparathyroidism.

Authors+Show Affiliations

Osaka University Graduate School of Medicine, Department of Pediatrics, Japan.

Pub Type(s)

Journal Article
Review

Language

jpn

PubMed ID

17660618

Citation

Ozono, Keiichi. "[GNAS1 Gene Abnormality in Pseudohypoparathyroidism I A]." Clinical Calcium, vol. 17, no. 8, 2007, pp. 1214-9.
Ozono K. [GNAS1 gene abnormality in pseudohypoparathyroidism I a]. Clin Calcium. 2007;17(8):1214-9.
Ozono, K. (2007). [GNAS1 gene abnormality in pseudohypoparathyroidism I a]. Clinical Calcium, 17(8), 1214-9.
Ozono K. [GNAS1 Gene Abnormality in Pseudohypoparathyroidism I A]. Clin Calcium. 2007;17(8):1214-9. PubMed PMID: 17660618.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [GNAS1 gene abnormality in pseudohypoparathyroidism I a]. A1 - Ozono,Keiichi, PY - 2007/7/31/pubmed PY - 2007/10/3/medline PY - 2007/7/31/entrez SP - 1214 EP - 9 JF - Clinical calcium JO - Clin Calcium VL - 17 IS - 8 N2 - Pseudophypoparathyroidism (PHP) is characterized by hypocalcemia, hyperphosphatemia and elevated levels of parathyroid hormone (PTH) due to resistance to PTH. PHP type I a is caused by heterozygous inactivating mutation of the GNAS1 gene, which encodes signal transducer, Gsalpha. PHP type I a is associated with Albright's osteodystrophy (AHO). Those patients who have AHO phenotype without hormone resistance are affected by pseudopseudohypoparathyroidism. SN - 0917-5857 UR - https://www.unboundmedicine.com/medline/citation/17660618/[GNAS1_gene_abnormality_in_pseudohypoparathyroidism_I_a]_ L2 - http://www.diseaseinfosearch.org/result/9624 DB - PRIME DP - Unbound Medicine ER -