New mutation in the CASR gene in a family with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT). (Record no. 20736042)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01429 a2200385 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516032319.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201110s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1677-9487 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1590/s0004-27302011000100009 |
| 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 | Rodrigues, Luiza Souza |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20111024 |
| 245 00 - TITLE STATEMENT | |
| Title | New mutation in the CASR gene in a family with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT). |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Arquivos brasileiros de endocrinologia e metabologia |
| Date of publication, distribution, etc. | Feb 2011 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 67-71 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article |
| 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 | Humans |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Hypercalcemia |
| General subdivision | blood |
| 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 | Infant |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Infant, Newborn |
| 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 | Receptors, Calcium-Sensing |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Recurrence |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cáu, Ana Carolina Arias |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bussmann, Luciane Zgoda |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bastida, Gabriela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brunetto, Oscar H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Corrêa, Pedro Henrique Silveira |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Martin, Regina Matsunaga |
| 773 0# - HOST ITEM ENTRY | |
| Title | Arquivos brasileiros de endocrinologia e metabologia |
| Related parts | vol. 55 |
| -- | no. 1 |
| -- | p. 67-71 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1590/s0004-27302011000100009">https://doi.org/10.1590/s0004-27302011000100009</a> |
| Public note | Available from publisher's website |
No items available.