Novel human pathological mutations. Gene symbol: COL4A5. Disease: Alport syndrome. (Record no. 17851749)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 00958 a2200313 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515113132.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200804s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0340-6717 |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | NLM |
| Language of cataloging | eng |
| Transcribing agency | NLM |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Minucci, Angelo |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20080402 |
| 245 00 - TITLE STATEMENT | |
| Title | Novel human pathological mutations. Gene symbol: COL4A5. Disease: Alport syndrome. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human genetics |
| Date of publication, distribution, etc. | Nov 2007 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 414 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Amino Acid Substitution |
| 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 | Collagen Type IV |
| General subdivision | genetics |
| 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 | 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 | Nephritis, Hereditary |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Capoluongo, Ettore |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Concolino, Paola |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Concetta, Santonocito |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zuppi, Cecilia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Giardina, Bruno |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human genetics |
| Related parts | vol. 122 |
| -- | no. 3-4 |
| -- | p. 414 |
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