The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis. (Record no. 22342427)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01890 a2200601 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516124555.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201309s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1460-2083 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1093/hmg/dds514 |
| 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 | Dieterich, Klaus |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20130903 |
| 245 00 - TITLE STATEMENT | |
| Title | The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human molecular genetics |
| Date of publication, distribution, etc. | Apr 2013 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1483-92 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 | Animals |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Arthrogryposis |
| General subdivision | embryology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Central Nervous System |
| General subdivision | pathology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosome Mapping |
| 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 | Embryonic Development |
| General subdivision | genetics |
| 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 | Genetic Linkage |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Homozygote |
| 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 | Metalloendopeptidases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mice |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Motor Neurons |
| General subdivision | pathology |
| 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 |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Quijano-Roy, Susana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Monnier, Nicole |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zhou, Jie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fauré, Julien |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Smirnow, Daniela Avila |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Carlier, Robert |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Laroche, Cécile |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Marcorelles, Pascale |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mercier, Sandra |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mégarbané, André |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Odent, Sylvie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Romero, Norma |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sternberg, Damien |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Marty, Isabelle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Estournet, Brigitte |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jouk, Pierre-Simon |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Melki, Judith |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lunardi, Joël |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human molecular genetics |
| Related parts | vol. 22 |
| -- | no. 8 |
| -- | p. 1483-92 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1093/hmg/dds514">https://doi.org/10.1093/hmg/dds514</a> |
| Public note | Available from publisher's website |
No items available.