A novel mutation in the FGB: c.1105C>T turns the codon for amino acid Bβ Q339 into a stop codon causing hypofibrinogenemia. (Record no. 22370910)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01308 a2200385 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516125604.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201307s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1096-0961 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.bcmd.2012.11.010 |
| 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 | Marchi, Rita |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20130723 |
| 245 00 - TITLE STATEMENT | |
| Title | A novel mutation in the FGB: c.1105C>T turns the codon for amino acid Bβ Q339 into a stop codon causing hypofibrinogenemia. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Blood cells, molecules & diseases |
| Date of publication, distribution, etc. | Mar 2013 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 177-81 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 | Adolescent |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Afibrinogenemia |
| General subdivision | blood |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Blood Coagulation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Codon, Nonsense |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Fibrin |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Fibrinogen |
| 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 | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Multimerization |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brennan, Stephen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Meyer, Michael |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rojas, Héctor |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kanzler, Daniela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | De Agrela, Marisela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ruiz-Saez, Arlette |
| 773 0# - HOST ITEM ENTRY | |
| Title | Blood cells, molecules & diseases |
| Related parts | vol. 50 |
| -- | no. 3 |
| -- | p. 177-81 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.bcmd.2012.11.010">https://doi.org/10.1016/j.bcmd.2012.11.010</a> |
| Public note | Available from publisher's website |
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