Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT. (Record no. 10429001)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02548 a2200937 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250513191909.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 199909s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1061-4036 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/12652 |
| 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 | Feliubadaló, L |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 19990923 |
| 245 00 - TITLE STATEMENT | |
| Title | Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Nature genetics |
| Date of publication, distribution, etc. | Sep 1999 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 52-7 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 | Amino Acid Transport Systems, Basic |
| 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 | COS Cells |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Carrier Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosomes, Human, Pair 19 |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cystinuria |
| General subdivision | ethnology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA, Complementary |
| General subdivision | analysis |
| 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 | Frameshift Mutation |
| 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 | Italy |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Jews |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Libya |
| 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 | Membrane Glycoproteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Models, Biological |
| 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, Missense |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | North America |
| 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 | Sequence Homology, Amino Acid |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Spain |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Tissue Distribution |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Font, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Purroy, J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rousaud, F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Estivill, X |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nunes, V |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Golomb, E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Centola, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Aksentijevich, I |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kreiss, Y |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Goldman, B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pras, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kastner, D L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pras, E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gasparini, P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bisceglia, L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Beccia, E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gallucci, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Sanctis, L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ponzone, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rizzoni, G F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zelante, L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bassi, M T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | George, A L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Manzoni, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | De Grandi, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Riboni, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Endsley, J K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ballabio, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Borsani, G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Reig, N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fernández, E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Estévez, R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pineda, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Torrents, D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Camps, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lloberas, J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zorzano, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Palacín, M |
| 773 0# - HOST ITEM ENTRY | |
| Title | Nature genetics |
| Related parts | vol. 23 |
| -- | no. 1 |
| -- | p. 52-7 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/12652">https://doi.org/10.1038/12652</a> |
| Public note | Available from publisher's website |
No items available.