A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect. (Record no. 25953771)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02658 a2200865 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517092459.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201705s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1537-6605 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.ajhg.2016.03.018 |
| 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 | McEntagart, Meriel |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20170515 |
| 245 00 - TITLE STATEMENT | |
| Title | A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | 05 2016 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 981-992 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 | Adolescent |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Animals |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Aniridia |
| General subdivision | etiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cells, Cultured |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cerebellar Ataxia |
| General subdivision | etiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child |
| 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 | Genes, Dominant |
| 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 | Inositol 1,4,5-Trisphosphate Receptors |
| General subdivision | chemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Intellectual Disability |
| General subdivision | etiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Lymphocytes |
| General subdivision | metabolism |
| 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 | Mice |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Microscopy, Confocal |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Middle Aged |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation |
| 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 | Protein Conformation |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Williamson, Kathleen A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rainger, Jacqueline K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wheeler, Ann |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Seawright, Anne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | De Baere, Elfride |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Verdin, Hannah |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bergendahl, L Therese |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Quigley, Alan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rainger, Joe |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dixit, Abhijit |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sarkar, Ajoy |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | López Laso, Eduardo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sanchez-Carpintero, Rocio |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Barrio, Jesus |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bitoun, Pierre |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Prescott, Trine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Riise, Ruth |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | McKee, Shane |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cook, Jackie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | McKie, Lisa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ceulemans, Berten |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Meire, Françoise |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Temple, I Karen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Prieur, Fabienne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Williams, Jonathan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Clouston, Penny |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Németh, Andrea H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Banka, Siddharth |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bengani, Hemant |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Handley, Mark |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Freyer, Elisabeth |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ross, Allyson |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Heyningen, Veronica |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Marsh, Joseph A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Elmslie, Frances |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | FitzPatrick, David R |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 98 |
| -- | no. 5 |
| -- | p. 981-992 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2016.03.018">https://doi.org/10.1016/j.ajhg.2016.03.018</a> |
| Public note | Available from publisher's website |
No items available.