A family of autosomal dominant hypocalcemia with a positive correlation between serum calcium and magnesium: identification of a novel gain of function mutation (Ser(820)Phe) in the calcium-sensing receptor. (Record no. 11946499)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 01975 a2200601 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250514034101.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200207s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0021-972X |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1210/jcem.87.6.8531 |
| 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 | Nagase, Terumasa |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20020703 |
| 245 00 - TITLE STATEMENT | |
| Title | A family of autosomal dominant hypocalcemia with a positive correlation between serum calcium and magnesium: identification of a novel gain of function mutation (Ser(820)Phe) in the calcium-sensing receptor. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | The Journal of clinical endocrinology and metabolism |
| Date of publication, distribution, etc. | Jun 2002 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 2681-7 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adolescent |
| 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 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Base Sequence |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Blotting, Western |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Calcium |
| General subdivision | blood |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cell Line |
| 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 | Female |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genes, Dominant |
| 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 | Hypocalcemia |
| General subdivision | blood |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Magnesium |
| General subdivision | blood |
| 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 | Molecular Sequence Data |
| 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 |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Receptors, Cell Surface |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Reference Values |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Murakami, Takehiko |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tsukada, Toshihiko |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kitamura, Ryuichi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chikatsu, Noriko |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Takeo, Hiroki |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Takata, Nobuki |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yasuda, Hiroko |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fukumoto, Seiji |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tanaka, Yuji |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nagata, Naokazu |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yamaguchi, Ken |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Akatsu, Takuhiko |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yamamoto, Michiko |
| 773 0# - HOST ITEM ENTRY | |
| Title | The Journal of clinical endocrinology and metabolism |
| Related parts | vol. 87 |
| -- | no. 6 |
| -- | p. 2681-7 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1210/jcem.87.6.8531">https://doi.org/10.1210/jcem.87.6.8531</a> |
| Public note | Available from publisher's website |
No items available.