First report of two independent point factorVIII mutations in a family with haemophilia a: a word of caution for carrier diagnosis. (Record no. 15893921)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01386 a2200397 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515004557.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200606s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0340-6245 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1160/TH05-03-0675 |
| 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 | Tizzano, Eduardo F |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20060606 |
| 245 00 - TITLE STATEMENT | |
| Title | First report of two independent point factorVIII mutations in a family with haemophilia a: a word of caution for carrier diagnosis. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Thrombosis and haemostasis |
| Date of publication, distribution, etc. | Sep 2005 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 675-7 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Mutational Analysis |
| General subdivision | methods |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Factor VIII |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Carrier Screening |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Haplotypes |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Hemophilia A |
| General subdivision | diagnosis |
| 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 | Pedigree |
| 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 |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Venceslá, Adoracioń |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baena, Manel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cornet, Mónica |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Calvo, María T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lucía, José F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pérez Garrido, Rosario |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Núñez, Ramiro |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baiget, Montserrat |
| 773 0# - HOST ITEM ENTRY | |
| Title | Thrombosis and haemostasis |
| Related parts | vol. 94 |
| -- | no. 3 |
| -- | p. 675-7 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1160/TH05-03-0675">https://doi.org/10.1160/TH05-03-0675</a> |
| Public note | Available from publisher's website |
No items available.