Haplotype Analysis Reveals Founder Effects of Thyroglobulin Gene Mutations C1058R and C1977S in Japan-Reference-Cited by-同舟云学术

Haplotype Analysis Reveals Founder Effects of Thyroglobulin Gene Mutations C1058R and C1977S in Japan

Published:2006-08-01 Issue:8 Volume:91 Page:3100-3104
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Hishinuma Akira¹,Fukata Shuji²,Nishiyama Soroku³,Nishi Yoshikazu⁴,Oh-Ishi Masamichi⁵,Murata Yoshiharu⁶,Ohyama Yoshihide⁷,Matsuura Nobuo⁸,Kasai Kikuo⁹,Harada Shohei¹⁰,Kitanaka Sachiko¹¹,Takamatsu Junta¹²,Kiwaki Kohji³,Ohye Hidemi²,Uruno Takashi²,Tomoda Chisato²,Tajima Toshihiro¹³,Kuma Kanji²,Miyauchi Akira²,Ieiri Tamio¹

Affiliation:

1. Departments of Clinical Laboratory Medicine (A.H., T.I.), Mibu, Tochigi, 321-0293, Japan

2. Kuma Hospital (S.F., H.O., T.U., C.T., K.Ku., A.M.), Kobe, Hyogo, 650-0011, Japan

3. Department of Pediatrics (S.N., K.Ki.), Kumamoto University School of Medicine, Kumamoto, 860-8556, Japan

4. Department of Pediatrics (Y.N.), Hiroshima Red Cross Hospital, Hiroshima, 730-8691, Japan

5. Department of Physics (M.O.-I.), Kitasato University, Kanagawa, 228-8555, Japan

6. Research Institute of Environmental Medicine (Y.M.), Nagoya University, Nagoya, 464-8601, Japan

7. Ohyama Clinic (Y.O.), Sagamihara, Kanagawa, 228-8555, Japan

8. School of Science, and Department of Pediatrics (N.M.), School of Medicine, Kitasato University, Kanagawa, 228-8555, Japan

9. Endocrinology and Metabolism (K.Ka.), Dokkyo University School of Medicine, Mibu, Tochigi, 321-0293, Japan

10. Department of Health Policy, National Center for Child Health and Development (S.H.), Setagaya, Tokyo, 157-8535, Japan

11. Department of Pediatrics, Graduate School of Medicine, University of Tokyo (S.K.), Bunkyo-ku, Tokyo, 113-8655, Japan

12. Takamatsu Endocrine Clinic (J.T.), Takatsuki, Osaka, 569-0804, Japan

13. Department of Pediatrics (T.T.), Hokkaido University School of Medicine, Sapporo, 060-8638, Japan

Publisher

The Endocrine Society

Subject

Biochemistry, medical,Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Link

http://academic.oup.com/jcem/article-pdf/91/8/3100/10442987/jcem3100.pdf

Reference18 articles.

1. Naturally occurring mutations in the thyroglobulin gene;Vono-Toniolo;Thyroid,2005

2. A 3′ splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism;Ieiri;J Clin Invest,1991

3. A nonsense mutation causes human hereditary congenital goiter with preferential production of a 171-nucleotide-deleted thyroglobulin ribonucleic acid messenger;Targovnik;J Clin Endocrinol Metab,1993

4. A 138-nucleotide deletion in the thyroglobulin ribonucleic acid messenger in a congenital goiter with defective thyroglobulin synthesis;Targovnik;J Clin Endocrinol Metab,1995

5. A premature stopcodon in thyroglobulin messenger RNA results in familial goiter and moderate hypothyroidism;van de Graaf;J Clin Endocrinol Metab,1999

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