New mutations, hotspots, and founder effects in Brazilian patients with steroid 5alpha-reductase deficiency type 2. (Record no. 15442912)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01638 a2200469 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250514221928.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200609s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0946-2716 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1007/s00109-005-0651-7 |
| 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 | Hackel, Christine |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20060928 |
| 245 00 - TITLE STATEMENT | |
| Title | New mutations, hotspots, and founder effects in Brazilian patients with steroid 5alpha-reductase deficiency type 2. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of molecular medicine (Berlin, Germany) |
| Date of publication, distribution, etc. | Jul 2005 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 569-76 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 | 3-Oxo-5-alpha-Steroid 4-Dehydrogenase |
| General subdivision | deficiency |
| 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 | Brazil |
| 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 | Consanguinity |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Disorders of Sex Development |
| General subdivision | enzymology |
| 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 | Founder Effect |
| 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 | 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 | Male |
| 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 | Sequence Analysis, DNA |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Oliveira, Luiz Eduardo Chimello |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ferraz, Lucio Fabio Caldas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tonini, Maria Manuela Oliveira |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Silva, Daniela Nunes |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Toralles, Maria Betania |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stuchi-Perez, Eliana Gabas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Guerra-Junior, Gil |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of molecular medicine (Berlin, Germany) |
| Related parts | vol. 83 |
| -- | no. 7 |
| -- | p. 569-76 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1007/s00109-005-0651-7">https://doi.org/10.1007/s00109-005-0651-7</a> |
| Public note | Available from publisher's website |
No items available.