A neutral variant involved in a complex CFTR allele contributes to a severe cystic fibrosis phenotype. (Record no. 15418408)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01362 a2200397 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250514221122.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200507s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0340-6717 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1007/s00439-004-1246-z |
| 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 | Clain, Jérôme |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20050712 |
| 245 00 - TITLE STATEMENT | |
| Title | A neutral variant involved in a complex CFTR allele contributes to a severe cystic fibrosis phenotype. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human genetics |
| Date of publication, distribution, etc. | May 2005 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 454-60 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 | Chloride Channels |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cystic Fibrosis |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cystic Fibrosis Transmembrane Conductance Regulator |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genes, Recessive |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Variation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | HeLa Cells |
| 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 | Mutation |
| 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 | Polymorphism, Genetic |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lehmann-Che, Jacqueline |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Girodon, Emmanuelle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lipecka, Joanna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Edelman, Aleksander |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Goossens, Michel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fanen, Pascale |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human genetics |
| Related parts | vol. 116 |
| -- | no. 6 |
| -- | p. 454-60 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1007/s00439-004-1246-z">https://doi.org/10.1007/s00439-004-1246-z</a> |
| Public note | Available from publisher's website |
No items available.