Founder mutation Arg485Pro led to recurrent compound heterozygous GGCX genotypes in two German patients with VKCFD type 1. (Record no. 16493355)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01551 a2200409 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515035441.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200610s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0957-5235 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1097/01.mbc.0000240927.88177.d1 |
| 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 | Rost, Simone |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20061012 |
| 245 00 - TITLE STATEMENT | |
| Title | Founder mutation Arg485Pro led to recurrent compound heterozygous GGCX genotypes in two German patients with VKCFD type 1. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis |
| Date of publication, distribution, etc. | Sep 2006 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 503-7 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 | Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Carbon-Carbon Ligases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Conserved Sequence |
| 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 | Founder Effect |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Haplotypes |
| General subdivision | genetics |
| 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 | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mixed Function Oxygenases |
| General subdivision | deficiency |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Analysis, DNA |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Vitamin K |
| General subdivision | administration & dosage |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Vitamin K Epoxide Reductases |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Geisen, Christof |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fregin, Andreas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Seifried, Erhard |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Müller, Clemens R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Oldenburg, Johannes |
| 773 0# - HOST ITEM ENTRY | |
| Title | Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis |
| Related parts | vol. 17 |
| -- | no. 6 |
| -- | p. 503-7 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1097/01.mbc.0000240927.88177.d1">https://doi.org/10.1097/01.mbc.0000240927.88177.d1</a> |
| Public note | Available from publisher's website |
No items available.