Yumiko Kanno

Two Novel Cysteine Substitutions (C1263R and C1995S) of Thyroglobulin Cause a Defect in Intracellular Transport of Thyroglobulin in Patients with Congenital Goiter and the Variant Type of Adenomatous Goiter1

Akira Hishinuma, Junta Takamatsu, Yoshihide Ohyama et al. · The Journal of Clinical Endocrinology & Metabolism · 1999 · 92 citations · Full text

Medicine, Endocrinology, Genetics +12

Missense Mutation (C1263R) in the Thyroglobulin Gene Causes Congenital Goiter with Mild Hypothyroidism by Impaired Intracellular Transport.

Akira Hishinuma, Kikuo Kasai, Nobuhide Masawa et al. · Endocrine Journal · 1998 · 31 citations · Full text

Life Sciences, Endocrinology, Genetics +17

Sequence Analysis of Thyroid Transcription Factor-1 Gene Reveals Absence of Mutations in Patients with Thyroid Dysgenesis but Presence of Polymorphisms in the 5' Flanking Region and Intron.

Akira Hishinuma, Takeo Kuribayashi, Yumiko Kanno et al. · Endocrine Journal · 1998 · 18 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12