LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. (Record no. 9782124)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01832 a2200565 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250513154742.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 199901s 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/7.13.2029 |
| 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 | Pilz, D T |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 19990121 |
| 245 00 - TITLE STATEMENT | |
| Title | LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human molecular genetics |
| Date of publication, distribution, etc. | Dec 1998 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 2029-37 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 | 1-Alkyl-2-acetylglycerophosphocholine Esterase |
| 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 | Brain |
| General subdivision | abnormalities |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA |
| General subdivision | chemistry |
| 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 | Doublecortin Domain Proteins |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Doublecortin Protein |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exons |
| 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 | Genotype |
| 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 | Introns |
| 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 | Microtubule-Associated Proteins |
| 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 | Nervous System Malformations |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neuropeptides |
| General subdivision | genetics |
| 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 | Proteins |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Matsumoto, N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Minnerath, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mills, P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gleeson, J G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Allen, K M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Walsh, C A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Barkovich, A J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dobyns, W B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ledbetter, D H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ross, M E |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human molecular genetics |
| Related parts | vol. 7 |
| -- | no. 13 |
| -- | p. 2029-37 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1093/hmg/7.13.2029">https://doi.org/10.1093/hmg/7.13.2029</a> |
| Public note | Available from publisher's website |
No items available.