Missense mutation (C1263R) in the thyroglobulin gene causes congenital goiter with mild hypothyroidism by impaired intracellular transport. [electronic resource]

By:

Hishinuma, A

Contributor(s):

Kasai, K
Masawa, N
Kanno, Y
Arimura, M
Shimoda, S I
Ieiri, T

Producer: 19990107Description: 315-27 p. digitalISSN:

0918-8959

Subject(s):

Adult
Amino Acid Sequence
Base Sequence
Biological Transport -- physiology
Female
Genes, Recessive
Goiter -- congenital
Humans
Hypothyroidism -- genetics
Molecular Sequence Data
Mutation, Missense
Reverse Transcriptase Polymerase Chain Reaction
Thyroglobulin -- genetics
Thyroid Hormones -- biosynthesis

Online resources:

Available from publisher's website

In: Endocrine journal vol. 45

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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

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Missense mutation (C1263R) in the thyroglobulin gene causes congenital goiter with mild hypothyroidism by impaired intracellular transport.

APA

Hishinuma A., Kasai K., Masawa N., Kanno Y., Arimura M., Shimoda S. I. & Ieiri T. (19990107). Missense mutation (C1263R) in the thyroglobulin gene causes congenital goiter with mild hypothyroidism by impaired intracellular transport. : Endocrine journal.

Chicago

Hishinuma A, Kasai K, Masawa N, Kanno Y, Arimura M, Shimoda S I and Ieiri T. 19990107. Missense mutation (C1263R) in the thyroglobulin gene causes congenital goiter with mild hypothyroidism by impaired intracellular transport. : Endocrine journal.

Harvard

Hishinuma A., Kasai K., Masawa N., Kanno Y., Arimura M., Shimoda S. I. and Ieiri T. (19990107). Missense mutation (C1263R) in the thyroglobulin gene causes congenital goiter with mild hypothyroidism by impaired intracellular transport. : Endocrine journal.

MLA

Hishinuma A, Kasai K, Masawa N, Kanno Y, Arimura M, Shimoda S I and Ieiri T. Missense mutation (C1263R) in the thyroglobulin gene causes congenital goiter with mild hypothyroidism by impaired intracellular transport. : Endocrine journal. 19990107.

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