Skewed X inactivation of the normal allele in fully mutated female carriers determines the levels of FMRP in blood and the fragile X phenotype. (Record no. 15896339)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 01702 a2200433 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515004640.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200707s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1084-8592 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1007/BF03260084 |
| 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 | Martínez, Raquel |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20070703 |
| 245 00 - TITLE STATEMENT | |
| Title | Skewed X inactivation of the normal allele in fully mutated female carriers determines the levels of FMRP in blood and the fragile X phenotype. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology |
| Date of publication, distribution, etc. | 2005 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 157-62 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 | Alleles |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Blotting, Southern |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exons |
| 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 | Fragile X Mental Retardation Protein |
| General subdivision | blood |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Fragile X Syndrome |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Heterozygote |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Homozygote |
| 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 | Mutation |
| General subdivision | genetics |
| 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 | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | X Chromosome Inactivation |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bonilla-Henao, Victoria |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jiménez, Antonio |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lucas, Miguel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vega, Carmen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ramos, Inmaculada |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sobrino, Francisco |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pintado, Elizabeth |
| 773 0# - HOST ITEM ENTRY | |
| Title | Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology |
| Related parts | vol. 9 |
| -- | no. 3 |
| -- | p. 157-62 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1007/BF03260084">https://doi.org/10.1007/BF03260084</a> |
| Public note | Available from publisher's website |
No items available.