Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals. (Record no. 21747067)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01987 a2200601 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516091243.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201209s 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.2011-3169 |
| 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 | Camats, N |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20120926 |
| 245 00 - TITLE STATEMENT | |
| Title | Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | The Journal of clinical endocrinology and metabolism |
| Date of publication, distribution, etc. | Jul 2012 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | E1294-306 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | 46, XX Disorders of Sex Development |
| General subdivision | complications |
| 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 | Base 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 | Child, Preschool |
| 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 | Disorder of Sex Development, 46,XY |
| 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 Predisposition to Disease |
| 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 | Male |
| 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 | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Point Mutation |
| General subdivision | physiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Primary Ovarian Insufficiency |
| General subdivision | complications |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Steroidogenic Factor 1 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pandey, A V |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fernández-Cancio, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Andaluz, P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Janner, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Torán, N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Moreno, F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bereket, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Akcay, T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | García-García, E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Muñoz, M T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gracia, R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nistal, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Castaño, L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mullis, P E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Carrascosa, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Audí, L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Flück, C E |
| 773 0# - HOST ITEM ENTRY | |
| Title | The Journal of clinical endocrinology and metabolism |
| Related parts | vol. 97 |
| -- | no. 7 |
| -- | p. E1294-306 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1210/jc.2011-3169">https://doi.org/10.1210/jc.2011-3169</a> |
| Public note | Available from publisher's website |
No items available.