Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems. (Record no. 15546978)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01856 a2200565 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250514225431.0 |
| 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 | 0002-9297 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1086/431244 |
| 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 | Brooks, Alice S |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20050829 |
| 245 00 - TITLE STATEMENT | |
| Title | Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | Jul 2005 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 120-6 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 | Abnormalities, Multiple |
| 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 10 |
| 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 | Consanguinity |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Enteric Nervous System |
| General subdivision | abnormalities |
| 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 | Hirschsprung Disease |
| General subdivision | genetics |
| 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 | Intellectual Disability |
| General subdivision | genetics |
| 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 | Nerve Tissue Proteins |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Nervous System Malformations |
| General subdivision | genetics |
| 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 | Syndrome |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bertoli-Avella, Aida M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Burzynski, Grzegorz M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Breedveld, Guido J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Osinga, Jan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Boven, Ludolf G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hurst, Jane A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mancini, Grazia M S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lequin, Maarten H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Coo, Rene F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Matera, Ivana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Graaff, Esther |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Meijers, Carel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Willems, Patrick J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tibboel, Dick |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Oostra, Ben A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hofstra, Robert M W |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 77 |
| -- | no. 1 |
| -- | p. 120-6 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1086/431244">https://doi.org/10.1086/431244</a> |
| Public note | Available from publisher's website |
No items available.