Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis. (Record no. 29869473)
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000 -LEADER | |
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fixed length control field | 02317 a2200769 4500 |
005 - DATE AND TIME OF LATEST TRANSACTION | |
control field | 20250518050111.0 |
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
fixed length control field | 202005s 0 0 eng d |
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
International Standard Serial Number | 1530-0366 |
024 7# - OTHER STANDARD IDENTIFIER | |
Standard number or code | 10.1038/s41436-019-0594-y |
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 | Li, Meng |
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
Date of production, publication, distribution, manufacture, or copyright notice | 20200501 |
245 00 - TITLE STATEMENT | |
Title | Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis. |
Medium | [electronic resource] |
260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
Name of publisher, distributor, etc. | Genetics in medicine : official journal of the American College of Medical Genetics |
Date of publication, distribution, etc. | 12 2019 |
300 ## - PHYSICAL DESCRIPTION | |
Extent | 2744-2754 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 | Adolescent |
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 | Aged |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Animals |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | China |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Cochlea |
General subdivision | metabolism |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Deafness |
General subdivision | etiology |
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 | Family |
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 | Genetic Linkage |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Genetic Testing |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Genotype |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Hearing Loss |
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 | 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 | Mice |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Mice, Inbred C57BL |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Multidrug Resistance-Associated Proteins |
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 | Mutation, Missense |
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 | Sequence Analysis, DNA |
General subdivision | methods |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Exome Sequencing |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Mei, Lingyun |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | He, Chufeng |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Chen, Hongsheng |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Cai, Xinzhang |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Liu, Yalan |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Tian, Runyi |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Tian, Qi |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Song, Jian |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Jiang, Lu |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Liu, Chang |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Wu, Hong |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Li, Taoxi |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Liu, Jing |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Li, Ximan |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Yi, Yifang |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Yan, Denise |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Blanton, Susan H |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Hu, Zhengmao |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Liu, Xuezhong |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Li, Jiada |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Ling, Jie |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Feng, Yong |
773 0# - HOST ITEM ENTRY | |
Title | Genetics in medicine : official journal of the American College of Medical Genetics |
Related parts | vol. 21 |
-- | no. 12 |
-- | p. 2744-2754 |
856 40 - ELECTRONIC LOCATION AND ACCESS | |
Uniform Resource Identifier | <a href="https://doi.org/10.1038/s41436-019-0594-y">https://doi.org/10.1038/s41436-019-0594-y</a> |
Public note | Available from publisher's website |
No items available.