Steroid 11-beta-hydroxylase deficiency caused by compound heterozygosity for a novel mutation, p.G314R, in one CYP11B1 allele, and a chimeric CYP11B2/CYP11B1 in the other allele. (Record no. 15680050)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01681 a2200493 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250514233723.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200510s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0301-0163 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1159/000087074 |
| 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 | Kuribayashi, Isao |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20051011 |
| 245 00 - TITLE STATEMENT | |
| Title | Steroid 11-beta-hydroxylase deficiency caused by compound heterozygosity for a novel mutation, p.G314R, in one CYP11B1 allele, and a chimeric CYP11B2/CYP11B1 in the other allele. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Hormone research |
| Date of publication, distribution, etc. | 2005 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 284-93 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 | Adrenal Hyperplasia, Congenital |
| General subdivision | enzymology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Alleles |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Amino Acid Sequence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Animals |
| 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 | COS Cells |
| 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 | Chlorocebus aethiops |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cytochrome P-450 CYP11B2 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Heterozygote |
| 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 | Mutation, Missense |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Recombinant Fusion Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Alignment |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Steroid 11-beta-Hydroxylase |
| General subdivision | biosynthesis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Zona Fasciculata |
| General subdivision | enzymology |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nomoto, Satoshi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Massa, Guy |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Oostdijk, Wilma |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wit, Jan M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wolffenbuttel, Bruce H R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shizuta, Yutaka |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Honke, Koichi |
| 773 0# - HOST ITEM ENTRY | |
| Title | Hormone research |
| Related parts | vol. 63 |
| -- | no. 6 |
| -- | p. 284-93 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1159/000087074">https://doi.org/10.1159/000087074</a> |
| Public note | Available from publisher's website |
No items available.