The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles. (Record no. 24046149)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02193 a2200625 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516224351.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201410s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1537-6605 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.ajhg.2014.06.014 |
| 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 | Boone, Philip M |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20141015 |
| 245 00 - TITLE STATEMENT | |
| Title | The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | Aug 2014 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 143-61 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S. |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adenosine Triphosphatases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Alu Elements |
| General subdivision | genetics |
| 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 | Cation Transport Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cell Line, Transformed |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Copy Number Variations |
| General subdivision | genetics |
| 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 | Protein Isoforms |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Recombinant Fusion Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Analysis, DNA |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Deletion |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Spastic Paraplegia, Hereditary |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Spastin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yuan, Bo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Campbell, Ian M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Scull, Jennifer C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Withers, Marjorie A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baggett, Brett C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Beck, Christine R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shaw, Christine J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stankiewicz, Pawel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Moretti, Paolo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Goodwin, Wendy E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hein, Nichole |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fink, John K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Seong, Moon-Woo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Seo, Soo Hyun |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Park, Sung Sup |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Karbassi, Izabela D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Batish, Sat Dev |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ordóñez-Ugalde, Andrés |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Quintáns, Beatriz |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sobrido, María-Jesús |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stemmler, Susanne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lupski, James R |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 95 |
| -- | no. 2 |
| -- | p. 143-61 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2014.06.014">https://doi.org/10.1016/j.ajhg.2014.06.014</a> |
| Public note | Available from publisher's website |
No items available.