Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy. (Record no. 15324875)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02013 a2200625 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250514214009.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200503s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0002-9297 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1086/428141 |
| 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 | Nakabayashi, Kazuhiko |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20050328 |
| 245 00 - TITLE STATEMENT | |
| Title | Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | Mar 2005 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 510-6 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 | Amino Acid Sequence |
| 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 | Chromosomes, Human, Pair 7 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA |
| General subdivision | genetics |
| 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 | Ectodermal Dysplasia |
| General subdivision | genetics |
| 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 | Hair |
| General subdivision | abnormalities |
| 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 | 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 | Open Reading Frames |
| 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 | Photosensitivity Disorders |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Homology, Amino Acid |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Syndrome |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Amann, Daniela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ren, Yan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Saarialho-Kere, Ulpu |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Avidan, Nili |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gentles, Simone |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | MacDonald, Jeffrey R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Puffenberger, Erik G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Christiano, Angela M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Martinez-Mir, Amalia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Salas-Alanis, Julio C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rizzo, Renata |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vamos, Esther |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Raams, Anja |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Les, Clifford |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Seboun, Eric |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jaspers, Nicolaas G J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Beckmann, Jacques S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jackson, Charles E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Scherer, Stephen W |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 76 |
| -- | no. 3 |
| -- | p. 510-6 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1086/428141">https://doi.org/10.1086/428141</a> |
| Public note | Available from publisher's website |
No items available.