Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP). (Record no. 14706558)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01921 a2200637 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250514181244.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200406s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1468-6244 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1136/jmg.2003.012369 |
| 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 | Villablanca, A |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20040615 |
| 245 00 - TITLE STATEMENT | |
| Title | Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP). |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of medical genetics |
| Date of publication, distribution, etc. | Mar 2004 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | e32 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: 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 | Aged |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Amino Acid Sequence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Mutational Analysis |
| 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 | France |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genes, Tumor Suppressor |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Germ-Line Mutation |
| General subdivision | genetics |
| 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 | Hyperparathyroidism |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Middle Aged |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mosaicism |
| General subdivision | genetics |
| 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 | Proteins |
| General subdivision | chemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Proto-Oncogene Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Receptors, Calcium-Sensing |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Tumor Suppressor Proteins |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Calender, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Forsberg, L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Höög, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cheng, J-D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Petillo, D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bauters, C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kahnoski, K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ebeling, T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Salmela, P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Richardson, A-L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Delbridge, L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Meyrier, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Proye, C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Carpten, J D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Teh, B T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Robinson, B G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Larsson, C |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of medical genetics |
| Related parts | vol. 41 |
| -- | no. 3 |
| -- | p. e32 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1136/jmg.2003.012369">https://doi.org/10.1136/jmg.2003.012369</a> |
| Public note | Available from publisher's website |
No items available.