Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome. (Record no. 26379084)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01830 a2200565 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517113351.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201711s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1468-6244 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1136/jmedgenet-2016-103996 |
| 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 | Arnaud, Pauline |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20171120 |
| 245 00 - TITLE STATEMENT | |
| Title | Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of medical genetics |
| Date of publication, distribution, etc. | 02 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 100-103 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 | Alleles |
| 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 | Female |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Fibrillin-1 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Predisposition to Disease |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Testing |
| 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 | Homozygote |
| 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 | Marfan Syndrome |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation, Missense |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pathology, Molecular |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pedigree |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hanna, Nadine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Aubart, Mélodie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Leheup, Bruno |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dupuis-Girod, Sophie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Naudion, Sophie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lacombe, Didier |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Milleron, Olivier |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Odent, Sylvie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Faivre, Laurence |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bal, Laurence |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Edouard, Thomas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Collod-Beroud, Gwenaëlle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Langeois, Maud |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Spentchian, Myrtille |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gouya, Laurent |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jondeau, Guillaume |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Boileau, Catherine |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of medical genetics |
| Related parts | vol. 54 |
| -- | no. 2 |
| -- | p. 100-103 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1136/jmedgenet-2016-103996">https://doi.org/10.1136/jmedgenet-2016-103996</a> |
| Public note | Available from publisher's website |
No items available.