Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. (Record no. 11710343)
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|---|---|
| fixed length control field | 02654 a2200889 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250514022355.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200203s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1061-4036 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/ng821 |
| 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 | Boerkoel, Cornelius F |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20020306 |
| 245 00 - TITLE STATEMENT | |
| Title | Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Nature genetics |
| Date of publication, distribution, etc. | Feb 2002 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 215-20 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
| 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 | Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Alleles |
| 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 | Base Sequence |
| 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 | Child, Preschool |
| 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 | Conserved Sequence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Helicases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Mutational Analysis |
| 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 | Genes, Recessive |
| 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 | Immunologic Deficiency Syndromes |
| 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 | Mutation, Missense |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Osteochondrodysplasias |
| General subdivision | genetics |
| 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 | Renal Insufficiency |
| General subdivision | genetics |
| 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 | Species Specificity |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | T-Lymphocytes |
| General subdivision | immunology |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Takashima, Hiroshi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | John, Joy |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yan, Jiong |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stankiewicz, Pawel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rosenbarker, Lisa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | André, Jean-Luc |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bogdanovic, Radovan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Burguet, Antoine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cockfield, Sandra |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cordeiro, Isabel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fründ, Stefan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Illies, Friederike |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Joseph, Mark |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kaitila, Ilkka |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lama, Giuliana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Loirat, Chantal |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | McLeod, D Ross |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Milford, David V |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Petty, Elizabeth M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rodrigo, Francisco |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Saraiva, Jorge M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schmidt, Beate |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Smith, Graham C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Spranger, Jürgen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stein, Anja |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thiele, Hannelore |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tizard, Jane |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Weksberg, Rosanna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lupski, James R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stockton, David W |
| 773 0# - HOST ITEM ENTRY | |
| Title | Nature genetics |
| Related parts | vol. 30 |
| -- | no. 2 |
| -- | p. 215-20 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/ng821">https://doi.org/10.1038/ng821</a> |
| Public note | Available from publisher's website |
No items available.