Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). (Record no. 16610377)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02539 a2200829 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515043334.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200612s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0002-9297 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1086/508294 |
| 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 | Hrebícek, Martin |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20061204 |
| 245 00 - TITLE STATEMENT | |
| Title | Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | Nov 2006 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 807-19 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 | Acetyltransferases |
| General subdivision | chemistry |
| 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 | Animals |
| 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 | Cell Line |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosome Mapping |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosomes, Human, Pair 8 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cloning, Molecular |
| 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 | DNA, Complementary |
| General subdivision | genetics |
| 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 | Gene Expression |
| 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 | Mice |
| 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 | Mucopolysaccharidosis III |
| General subdivision | enzymology |
| 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 | Pedigree |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Polymerase Chain Reaction |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Recombinant Fusion Proteins |
| 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 | Transfection |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mrázová, Lenka |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Seyrantepe, Volkan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Durand, Stéphanie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Roslin, Nicole M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nosková, Lenka |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hartmannová, Hana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ivánek, Robert |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cízkova, Alena |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Poupetová, Helena |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sikora, Jakub |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Urinovská, Jana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stranecký, Viktor |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zeman, Jirí |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lepage, Pierre |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Roquis, David |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Verner, Andrei |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ausseil, Jérome |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Beesley, Clare E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Maire, Irène |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Poorthuis, Ben J H M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van de Kamp, Jiddeke |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van Diggelen, Otto P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wevers, Ron A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hudson, Thomas J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fujiwara, T Mary |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Majewski, Jacek |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Morgan, Kenneth |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kmoch, Stanislav |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pshezhetsky, Alexey V |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 79 |
| -- | no. 5 |
| -- | p. 807-19 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1086/508294">https://doi.org/10.1086/508294</a> |
| Public note | Available from publisher's website |
No items available.