Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. (Record no. 15442661)
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|---|---|
| fixed length control field | 02285 a2200709 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250514221924.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200508s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1018-4813 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/sj.ejhg.5201372 |
| 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 | Hichri, Haifa |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20050816 |
| 245 00 - TITLE STATEMENT | |
| Title | Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | European journal of human genetics : EJHG |
| Date of publication, distribution, etc. | May 2005 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 607-16 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 | Adaptor Proteins, Signal Transducing |
| 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 | Bardet-Biedl Syndrome |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cohort Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cytoskeletal Proteins |
| 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 | France |
| 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 | Genetic Heterogeneity |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Testing |
| General subdivision | methods |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Group II Chaperonins |
| 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 | Microsatellite Repeats |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Microtubule-Associated Proteins |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Molecular Chaperones |
| General subdivision | chemistry |
| 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 |
| 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 | Polymorphism, Genetic |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Proteins |
| General subdivision | chemistry |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stoetzel, Corinne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Laurier, Virginie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Caron, Solenne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sigaudy, Sabine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sarda, Pierre |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hamel, Christian |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Martin-Coignard, Dominique |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gilles, Morin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Leheup, Bruno |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Holder, Mureille |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kaplan, Josseline |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bitoun, Pierre |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lacombe, Didier |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Verloes, Alain |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bonneau, Dominique |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Perrin-Schmitt, Fabienne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brandt, Christian |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Besancon, Anne-Françoise |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mandel, Jean-Louis |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cossée, Mireille |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dollfus, Hélène |
| 773 0# - HOST ITEM ENTRY | |
| Title | European journal of human genetics : EJHG |
| Related parts | vol. 13 |
| -- | no. 5 |
| -- | p. 607-16 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/sj.ejhg.5201372">https://doi.org/10.1038/sj.ejhg.5201372</a> |
| Public note | Available from publisher's website |
No items available.