Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene. (Record no. 12005672)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02532 a2200853 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250514040057.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200209s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1468-6244 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1136/jmg.39.7.e38 |
| 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 | Cybulski, C |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20020905 |
| 245 00 - TITLE STATEMENT | |
| Title | Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of medical genetics |
| Date of publication, distribution, etc. | Jul 2002 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | E38 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 | Adrenal Gland Neoplasms |
| General subdivision | genetics |
| 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 | Child |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Diagnosis, Differential |
| 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 Deletion |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genes, Tumor Suppressor |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Carrier Screening |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Germ-Line Mutation |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Haplotypes |
| 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 | Ligases |
| 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 | Middle Aged |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pheochromocytoma |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Poland |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Tumor Suppressor Proteins |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Ubiquitin-Protein Ligases |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Von Hippel-Lindau Tumor Suppressor Protein |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | von Hippel-Lindau Disease |
| General subdivision | diagnosis |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Krzystolik, K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Murgia, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Górski, B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Debniak, T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jakubowska, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Martella, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kurzawski, G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Prost, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kojder, I |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Limon, J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nowacki, P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sagan, L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Białas, B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kałuza, J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zdunek, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Omulecka, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jaskólski, D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kostyk, E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Koraszewska-Matuszewska, B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Haus, O |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Janiszewska, H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pecold, K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Starzycka, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Słomski, R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cwirko, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sikorski, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gliniewicz, B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cyryłowski, L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fiszer-Maliszewska, Ł |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gronwald, J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tołoczko-Grabarek, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zajaczek, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lubiński, J |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of medical genetics |
| Related parts | vol. 39 |
| -- | no. 7 |
| -- | p. E38 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1136/jmg.39.7.e38">https://doi.org/10.1136/jmg.39.7.e38</a> |
| Public note | Available from publisher's website |
No items available.