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Mutations in exon 7 of the GTP-binding protein Gs alpha were not a common cause of pseudohypoparathyroidism with Albright's hereditary osteodystrophy in Japanese.
Endocr J. 1997 Aug; 44(4):621-5.EJ

Abstract

The identification of unique point mutations in patients with pseudohypoparathyroidism (PHP) with Albright's hereditary osteodystrophy (AHO) in different ethnic backgrounds has proved that defects within the Gs alpha gene account for Gs alpha deficiency in those patients. To search a mutation hot spot of the Gs alpha gene in Japanese patients, we have screened exons 2-13 of the Gs alpha gene for mutations in three unrelated Japanese PHP patients with AHO. We could find no abnormalities by denaturing gradient gel electrophoresis and no mutations of sequencing of exon 7 in these subjects. This suggests that mutations in exon 7 of the Gs alpha gene may not be a common cause of PHP with AHO in Japanese.

Authors+Show Affiliations

Department of Clinical Laboratory Medicine, Kochi Medical School, Japan.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

9447300

Citation

Takeda, K, et al. "Mutations in Exon 7 of the GTP-binding Protein Gs Alpha Were Not a Common Cause of Pseudohypoparathyroidism With Albright's Hereditary Osteodystrophy in Japanese." Endocrine Journal, vol. 44, no. 4, 1997, pp. 621-5.
Takeda K, Yokoyama M, Hashimoto K, et al. Mutations in exon 7 of the GTP-binding protein Gs alpha were not a common cause of pseudohypoparathyroidism with Albright's hereditary osteodystrophy in Japanese. Endocr J. 1997;44(4):621-5.
Takeda, K., Yokoyama, M., Hashimoto, K., Hiromatsu, Y., Yamanaka, H., Shimizu, T., & Sasaki, M. (1997). Mutations in exon 7 of the GTP-binding protein Gs alpha were not a common cause of pseudohypoparathyroidism with Albright's hereditary osteodystrophy in Japanese. Endocrine Journal, 44(4), 621-5.
Takeda K, et al. Mutations in Exon 7 of the GTP-binding Protein Gs Alpha Were Not a Common Cause of Pseudohypoparathyroidism With Albright's Hereditary Osteodystrophy in Japanese. Endocr J. 1997;44(4):621-5. PubMed PMID: 9447300.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mutations in exon 7 of the GTP-binding protein Gs alpha were not a common cause of pseudohypoparathyroidism with Albright's hereditary osteodystrophy in Japanese. AU - Takeda,K, AU - Yokoyama,M, AU - Hashimoto,K, AU - Hiromatsu,Y, AU - Yamanaka,H, AU - Shimizu,T, AU - Sasaki,M, PY - 1997/8/1/pubmed PY - 1998/2/3/medline PY - 1997/8/1/entrez SP - 621 EP - 5 JF - Endocrine journal JO - Endocr. J. VL - 44 IS - 4 N2 - The identification of unique point mutations in patients with pseudohypoparathyroidism (PHP) with Albright's hereditary osteodystrophy (AHO) in different ethnic backgrounds has proved that defects within the Gs alpha gene account for Gs alpha deficiency in those patients. To search a mutation hot spot of the Gs alpha gene in Japanese patients, we have screened exons 2-13 of the Gs alpha gene for mutations in three unrelated Japanese PHP patients with AHO. We could find no abnormalities by denaturing gradient gel electrophoresis and no mutations of sequencing of exon 7 in these subjects. This suggests that mutations in exon 7 of the Gs alpha gene may not be a common cause of PHP with AHO in Japanese. SN - 0918-8959 UR - https://www.unboundmedicine.com/medline/citation/9447300/Mutations_in_exon_7_of_the_GTP_binding_protein_Gs_alpha_were_not_a_common_cause_of_pseudohypoparathyroidism_with_Albright's_hereditary_osteodystrophy_in_Japanese_ L2 - https://joi.jlc.jst.go.jp/JST.Journalarchive/endocrj1993/44.621?from=PubMed DB - PRIME DP - Unbound Medicine ER -