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 goiter

Journal of Clinical Endocrinology and Metabolism

Volumn 84, Issue 4, 1999, Pages 1438-1444

  Hishinuma, Akira ^a   Takamatsu, Junta ^b   Ohyama, Yoshihide ^c   Yokozawa, Tamotsu ^d   Kanno, Yumiko ^e   Kuma, Kanji ^d   Yoshida, Shigeru ^b   Matsuura, Nobuo ^c   Ieiri, Tamio ^a  

^a DOKKYO MEDICAL UNIVERSITY   (Japan)

^b OSAKA MEDICAL COLLEGE   (Japan)

^c KITASATO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d KUMA HOSPITAL   (Japan)

^e Sumitomo Metal Bio Science Inc   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

N ACETYL BETA GLUCOSAMINIDASE; THYROGLOBULIN;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CELL TRANSPORT; ENDOPLASMIC RETICULUM; GENETIC ANALYSIS; GOITER; HAPLOTYPE; HUMAN; HUMAN TISSUE; MISSENSE MUTATION; MULTIGENE FAMILY; PEDIGREE; PRIORITY JOURNAL; PROTEIN FOLDING; THYROID ADENOMA; THYROIDECTOMY;

EID: 0033323823     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.84.4.1438     Document Type: Article

References (23)

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