A novel GDAP1 mutation P78L responsible for CMT4A disease in three Moroccan families. (Record no. 17576506)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01423 a2200397 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515095743.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200801s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0317-1671 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1017/s0317167100007290 |
| 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 | Bouhouche, Ahmed |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20080123 |
| 245 00 - TITLE STATEMENT | |
| Title | A novel GDAP1 mutation P78L responsible for CMT4A disease in three Moroccan families. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques |
| Date of publication, distribution, etc. | Nov 2007 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 421-6 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 | Adolescent |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Age of Onset |
| 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 | Charcot-Marie-Tooth Disease |
| General subdivision | genetics |
| 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 | Female |
| 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 | Morocco |
| General subdivision | epidemiology |
| 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 | Nerve Tissue Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pedigree |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Birouk, Nazha |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Benomar, Ali |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ouazzani, Reda |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chkili, Taïeb |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yahyaoui, Mohamed |
| 773 0# - HOST ITEM ENTRY | |
| Title | The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques |
| Related parts | vol. 34 |
| -- | no. 4 |
| -- | p. 421-6 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1017/s0317167100007290">https://doi.org/10.1017/s0317167100007290</a> |
| Public note | Available from publisher's website |
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