Phenotypic Characterization of a Family With An In-frame Deletion in the DMD Gene and Variable Penetrance. (Record no. 28610726)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01536 a2200433 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517225249.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201908s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1875-5631 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.2174/1566523218666180709125346 |
| 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 | Perez-Sanchez, Inmaculada |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20190802 |
| 245 00 - TITLE STATEMENT | |
| Title | Phenotypic Characterization of a Family With An In-frame Deletion in the DMD Gene and Variable Penetrance. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Current gene therapy |
| Date of publication, distribution, etc. | 2018 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 246-251 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Aged, 80 and over |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Carrier Proteins |
| General subdivision | genetics |
| 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 | Dystrophin |
| General subdivision | genetics |
| 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 | G Protein-Coupled Inwardly-Rectifying Potassium Channels |
| General subdivision | genetics |
| 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 | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Muscular Dystrophy, Duchenne |
| General subdivision | genetics |
| 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 | Penetrance |
| 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 | Prognosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Deletion |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sabater-Molina, Maria |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rocamora, Maria Elisa Nicolas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Glover, Guillermo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Escudero, Fuensanta |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Mingo Casado, Pedro |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gimeno-Blanes, Juan Ramon |
| 773 0# - HOST ITEM ENTRY | |
| Title | Current gene therapy |
| Related parts | vol. 18 |
| -- | no. 4 |
| -- | p. 246-251 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.2174/1566523218666180709125346">https://doi.org/10.2174/1566523218666180709125346</a> |
| Public note | Available from publisher's website |
No items available.