Syndromic intellectual disability: a new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant. (Record no. 24542636)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01730 a2200529 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517012822.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201504s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1879-0038 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.gene.2015.01.026 |
| 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 | Graziano, Claudio |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20150410 |
| 245 00 - TITLE STATEMENT | |
| Title | Syndromic intellectual disability: a new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Gene |
| Date of publication, distribution, etc. | Apr 2015 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 144-8 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Abnormalities, Multiple |
| General subdivision | enzymology |
| 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 | Aromatic-L-Amino-Acid Decarboxylases |
| General subdivision | genetics |
| 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 | Consanguinity |
| 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 | Mutation, Missense |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Polymorphism, Single Nucleotide |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Syndrome |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wischmeijer, Anita |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pippucci, Tommaso |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fusco, Carlo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Diquigiovanni, Chiara |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nõukas, Margit |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sauk, Martin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kurg, Ants |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rivieri, Francesca |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Blau, Nenad |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hoffmann, Georg F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chaubey, Alka |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schwartz, Charles E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Romeo, Giovanni |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bonora, Elena |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Garavelli, Livia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Seri, Marco |
| 773 0# - HOST ITEM ENTRY | |
| Title | Gene |
| Related parts | vol. 559 |
| -- | no. 2 |
| -- | p. 144-8 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.gene.2015.01.026">https://doi.org/10.1016/j.gene.2015.01.026</a> |
| Public note | Available from publisher's website |
No items available.