Charcot-Marie-Tooth disease type 1A: the parental origin of a de novo 17p11.2-p12 duplication. (Record no. 7834230)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01219 a2200373 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250513045043.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 199503s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0009-9163 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1111/j.1399-0004.1994.tb04162.x |
| 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 | Hertz, J M |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 19950302 |
| 245 00 - TITLE STATEMENT | |
| Title | Charcot-Marie-Tooth disease type 1A: the parental origin of a de novo 17p11.2-p12 duplication. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Clinical genetics |
| Date of publication, distribution, etc. | Oct 1994 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 291-4 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article |
| 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 | Charcot-Marie-Tooth Disease |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosome Aberrations |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosomes, Human, Pair 17 |
| 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 | Fathers |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genomic Imprinting |
| 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 | Pedigree |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Repetitive Sequences, Nucleic Acid |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Børglum, A D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brandt, C A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Flint, T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bisgaard, C |
| 773 0# - HOST ITEM ENTRY | |
| Title | Clinical genetics |
| Related parts | vol. 46 |
| -- | no. 4 |
| -- | p. 291-4 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1111/j.1399-0004.1994.tb04162.x">https://doi.org/10.1111/j.1399-0004.1994.tb04162.x</a> |
| Public note | Available from publisher's website |
No items available.