A novel missense mutation, GLY424SER, in Brazilian patients with 21-hydroxylase deficiency. (Record no. 10401420)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01362 a2200397 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250513190911.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 199908s 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.84.8.5937 |
| 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 | Billerbeck, A E |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 19990819 |
| 245 00 - TITLE STATEMENT | |
| Title | A novel missense mutation, GLY424SER, in Brazilian patients with 21-hydroxylase deficiency. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | The Journal of clinical endocrinology and metabolism |
| Date of publication, distribution, etc. | Aug 1999 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 2870-2 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 | Adrenal Hyperplasia, Congenital |
| 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 | Humans |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Linkage Disequilibrium |
| 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 | Mutation, Missense |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Polymerase Chain Reaction |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Steroid 21-Hydroxylase |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bachega, T A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Frazatto, E T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nishi, M Y |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Goldberg, A C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Marin, M L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Madureira, G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Monte, O |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Arnhold, I J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mendonca, B B |
| 773 0# - HOST ITEM ENTRY | |
| Title | The Journal of clinical endocrinology and metabolism |
| Related parts | vol. 84 |
| -- | no. 8 |
| -- | p. 2870-2 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1210/jcem.84.8.5937">https://doi.org/10.1210/jcem.84.8.5937</a> |
| Public note | Available from publisher's website |
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