Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86. (Record no. 23414751)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02501 a2200805 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516190722.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201402s 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.2013.12.004 |
| 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 | Rehman, Atteeq U |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20140224 |
| 245 00 - TITLE STATEMENT | |
| Title | Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | Jan 2014 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 144-52 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 |
| 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 | Amino Acid Sequence |
| 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 | Chromosomes, Human, Pair 16 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Consanguinity |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Deafness |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Epilepsy |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exons |
| 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 | GTPase-Activating Proteins |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genes, Recessive |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Loci |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genome-Wide Association Study |
| 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 | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Membrane Proteins |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Molecular Sequence Data |
| 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 |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pakistan |
| 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 | Polymorphism, Single Nucleotide |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | RNA, Messenger |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Analysis, DNA |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Santos-Cortez, Regie Lyn P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Morell, Robert J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Drummond, Meghan C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ito, Taku |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lee, Kwanghyuk |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Khan, Asma A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Basra, Muhammad Asim R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wasif, Naveed |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ayub, Muhammad |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ali, Rana A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Raza, Syed I |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nickerson, Deborah A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shendure, Jay |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bamshad, Michael |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Riazuddin, Saima |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Billington, Neil |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Khan, Shaheen N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Friedman, Penelope L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Griffith, Andrew J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ahmad, Wasim |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Riazuddin, Sheikh |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Leal, Suzanne M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Friedman, Thomas B |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 94 |
| -- | no. 1 |
| -- | p. 144-52 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2013.12.004">https://doi.org/10.1016/j.ajhg.2013.12.004</a> |
| Public note | Available from publisher's website |
No items available.