Identification of a novel missense mutation G239R in exon 6a of the CFTR gene. (Record no. 7534211)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01293 a2200409 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250513031555.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 199504s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0001-5652 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1159/000154255 |
| 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 | Bienvenu, T |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 19950425 |
| 245 00 - TITLE STATEMENT | |
| Title | Identification of a novel missense mutation G239R in exon 6a of the CFTR gene. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human heredity |
| Date of publication, distribution, etc. | |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 53-4 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 | Aged |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Aged, 80 and over |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Base Sequence |
| 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 |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Mutational Analysis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exons |
| 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 | Humans |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Membrane Proteins |
| General subdivision | genetics |
| 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 | Point Mutation |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cazeneuve, C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fajac, I |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dusser, D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hubert, D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kaplan, J C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Beldjord, C |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human heredity |
| Related parts | vol. 45 |
| -- | no. 1 |
| -- | p. 53-4 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1159/000154255">https://doi.org/10.1159/000154255</a> |
| Public note | Available from publisher's website |
No items available.