Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency. (Record no. 12547757)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02661 a2200901 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250514070220.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200401s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0964-6906 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1093/hmg/ddg148 |
| 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 | Alam, N A |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20040130 |
| 245 00 - TITLE STATEMENT | |
| Title | Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human molecular genetics |
| Date of publication, distribution, etc. | Jun 2003 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1241-52 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 Metabolism, Inborn Errors |
| General subdivision | genetics |
| 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 | Enzyme Stability |
| 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 | Fumarate Hydratase |
| General subdivision | chemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Predisposition to Disease |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Germ-Line 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 | Kidney Neoplasms |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Leiomyomatosis |
| General subdivision | genetics |
| 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 |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Conformation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | RNA Stability |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | RNA, Messenger |
| General subdivision | metabolism |
| 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 | Skin Neoplasms |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Uterine Neoplasms |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rowan, A J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wortham, N C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pollard, P J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mitchell, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tyrer, J P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Barclay, E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Calonje, E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Manek, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Adams, S J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bowers, P W |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Burrows, N P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Charles-Holmes, R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cook, L J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Daly, B M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ford, G P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fuller, L C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hadfield-Jones, S E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hardwick, N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Highet, A S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Keefe, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | MacDonald-Hull, S P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Potts, E D A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Crone, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wilkinson, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Camacho-Martinez, F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jablonska, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ratnavel, R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | MacDonald, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mann, R J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Grice, K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Guillet, G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lewis-Jones, M S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | McGrath, H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Seukeran, D C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Morrison, P J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fleming, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rahman, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kelsell, D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Leigh, I |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Olpin, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tomlinson, I P M |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human molecular genetics |
| Related parts | vol. 12 |
| -- | no. 11 |
| -- | p. 1241-52 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1093/hmg/ddg148">https://doi.org/10.1093/hmg/ddg148</a> |
| Public note | Available from publisher's website |
No items available.