TY  - GEN
AU  - Hishinuma,A
AU  - Kasai,K
AU  - Masawa,N
AU  - Kanno,Y
AU  - Arimura,M
AU  - Shimoda,S I
AU  - Ieiri,T
TI  - Missense mutation (C1263R) in the thyroglobulin gene causes congenital goiter with mild hypothyroidism by impaired intracellular transport
SN  - 0918-8959
PY  - 1999///0107
KW  - Adult
KW  - Amino Acid Sequence
KW  - Base Sequence
KW  - Biological Transport
KW  - physiology
KW  - Female
KW  - Genes, Recessive
KW  - Goiter
KW  - congenital
KW  - Humans
KW  - Hypothyroidism
KW  - genetics
KW  - Molecular Sequence Data
KW  - Mutation, Missense
KW  - Reverse Transcriptase Polymerase Chain Reaction
KW  - Thyroglobulin
KW  - Thyroid Hormones
KW  - biosynthesis
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1507/endocrj.45.315
ER  -