Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. (Record no. 19320130)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01829 a2200601 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515194921.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201001s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1546-1718 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/ng.484 |
| 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 | Alders, Marielle |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20100105 |
| 245 00 - TITLE STATEMENT | |
| Title | Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Nature genetics |
| Date of publication, distribution, etc. | Dec 2009 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1272-4 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 | Abnormalities, Multiple |
| 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 | Animals |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Consanguinity |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genes, Recessive |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Heterozygote |
| 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 | Intellectual Disability |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Lymphangiectasis |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Lymphedema |
| 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 | 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 | Pedigree |
| 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 | Syndrome |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hogan, Benjamin M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gjini, Evisa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Salehi, Faranak |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Al-Gazali, Lihadh |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hennekam, Eric A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Holmberg, Eva E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mannens, Marcel M A M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mulder, Margot F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Offerhaus, G Johan A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Prescott, Trine E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schroor, Eelco J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Verheij, Joke B G M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Witte, Merlijn |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zwijnenburg, Petra J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vikkula, Mikka |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schulte-Merker, Stefan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hennekam, Raoul C |
| 773 0# - HOST ITEM ENTRY | |
| Title | Nature genetics |
| Related parts | vol. 41 |
| -- | no. 12 |
| -- | p. 1272-4 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/ng.484">https://doi.org/10.1038/ng.484</a> |
| Public note | Available from publisher's website |
No items available.