Biallelic p.R2223H mutation in the thyroglobulin gene causes thyroglobulin retention and severe hypothyroidism with subsequent development of thyroid carcinoma. (Record no. 19466412)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01673 a2200469 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515203704.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201003s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1945-7197 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1210/jc.2009-1823 |
| Source of number or code | doi |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | NLM |
| Language of cataloging | eng |
| Transcribing agency | NLM |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Raef, Hussein |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20100331 |
| 245 00 - TITLE STATEMENT | |
| Title | Biallelic p.R2223H mutation in the thyroglobulin gene causes thyroglobulin retention and severe hypothyroidism with subsequent development of thyroid carcinoma. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | The Journal of clinical endocrinology and metabolism |
| Date of publication, distribution, etc. | Mar 2010 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1000-6 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Alleles |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Carcinoma, Papillary, Follicular |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Congenital Hypothyroidism |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Female |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Testing |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Goiter |
| General subdivision | congenital |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Humans |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Immunohistochemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pedigree |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Thyroglobulin |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Thyroid Gland |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Thyroid Neoplasms |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Thyroidectomy |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Al-Rijjal, Roua |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Al-Shehri, Sameerah |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zou, Minjing |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Al-Mana, Hadeel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baitei, Essa Y |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Parhar, Ranjit S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Al-Mohanna, Futwan A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shi, Yufei |
| 773 0# - HOST ITEM ENTRY | |
| Title | The Journal of clinical endocrinology and metabolism |
| Related parts | vol. 95 |
| -- | no. 3 |
| -- | p. 1000-6 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1210/jc.2009-1823">https://doi.org/10.1210/jc.2009-1823</a> |
| Public note | Available from publisher's website |
No items available.