MARC details
| 000 -LEADER |
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| fixed length control field |
02768naaaa2200409uu 4500 |
| 001 - CONTROL NUMBER |
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| control field |
https://directory.doabooks.org/handle/20.500.12854/73676 |
| 005 - DATE AND TIME OF LATEST TRANSACTION |
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| control field |
20220714183209.0 |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER |
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| International Standard Book Number |
978-2-88963-524-5 |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER |
|---|
| International Standard Book Number |
9782889635245 |
| 024 7# - OTHER STANDARD IDENTIFIER |
|---|
| Standard number or code |
10.3389/978-2-88963-524-5 |
| Terms of availability |
doi |
| 041 0# - LANGUAGE CODE |
|---|
| Language code of text/sound track or separate title |
English |
| 042 ## - AUTHENTICATION CODE |
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| Authentication code |
dc |
| 072 #7 - SUBJECT CATEGORY CODE |
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| Subject category code |
PD |
| Source |
bicssc |
| 072 #7 - SUBJECT CATEGORY CODE |
|---|
| Subject category code |
MFN |
| Source |
bicssc |
| 100 1# - MAIN ENTRY--PERSONAL NAME |
|---|
| Personal name |
Gouw, Arvin M. |
| Relator code |
edt |
| 9 (RLIN) |
1602637 |
| 245 10 - TITLE STATEMENT |
|---|
| Title |
Applying Next Generation Sequencing and Transgenic Models to Rare Disease Research |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. (IMPRINT) |
|---|
| Name of publisher, distributor, etc |
Frontiers Media SA |
| Date of publication, distribution, etc |
2020 |
| 300 ## - PHYSICAL DESCRIPTION |
|---|
| Extent |
1 electronic resource (119 p.) |
| 506 0# - RESTRICTIONS ON ACCESS NOTE |
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| Terms governing access |
Open Access |
| Source of term |
star |
| Standardized terminology for access restriction |
Unrestricted online access |
| 520 ## - SUMMARY, ETC. |
|---|
| Summary, etc |
A rare disease is a disease that occurs infrequently in the general population, typically affecting fewer than 200,000 Americans at any given time. More than 30 million people in the United States of America (USA) and 350 million people globally suffer from rare diseases. Out of the 7000+ known rare diseases, less than 5% have approved treatments. Rare diseases are frequently chronic, progressive, degenerative, and life-threatening, compromising the lives of patients by loss of autonomy. In the USA, it can take years for a rare disease patient to receive a correct diagnosis. The socioeconomic burden for rare disease is huge. For those living with diagnosed rare diseases, there is no support system or resource bank for navigating financial, educational, or other aspects of having a rare disease. The purpose of this Research Topic is to bring together leading researchers, non-profit organizations, healthcare providers/diagnostic companies, and pharma/biotech/CROs in the field to provide a broad perspective on the latest advances, challenges, and opportunities in rare disease research. |
| 540 ## - TERMS GOVERNING USE AND REPRODUCTION NOTE |
|---|
| Terms governing use and reproduction |
Creative Commons |
| -- |
https://creativecommons.org/licenses/by/4.0/ |
| -- |
cc |
| -- |
https://creativecommons.org/licenses/by/4.0/ |
| 546 ## - LANGUAGE NOTE |
|---|
| Language note |
English |
| 650 #7 - SUBJECT ADDED ENTRY--TOPICAL TERM |
|---|
| Topical term or geographic name as entry element |
Science: general issues |
| Source of heading or term |
bicssc |
| 9 (RLIN) |
101510 |
| 650 #7 - SUBJECT ADDED ENTRY--TOPICAL TERM |
|---|
| Topical term or geographic name as entry element |
Medical genetics |
| Source of heading or term |
bicssc |
| 9 (RLIN) |
115091 |
| 653 ## - INDEX TERM--UNCONTROLLED |
|---|
| Uncontrolled term |
Rare disease |
| 653 ## - INDEX TERM--UNCONTROLLED |
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| Uncontrolled term |
Genomics |
| 653 ## - INDEX TERM--UNCONTROLLED |
|---|
| Uncontrolled term |
Next generation sequencing |
| 653 ## - INDEX TERM--UNCONTROLLED |
|---|
| Uncontrolled term |
transgenic |
| 653 ## - INDEX TERM--UNCONTROLLED |
|---|
| Uncontrolled term |
genetic analysis |
| 700 1# - ADDED ENTRY--PERSONAL NAME |
|---|
| Personal name |
Jaishankar, Amritha |
| Relator code |
edt |
| 9 (RLIN) |
1602638 |
| 700 1# - ADDED ENTRY--PERSONAL NAME |
|---|
| Personal name |
Brooks, George A. |
| Relator code |
edt |
| 9 (RLIN) |
1602639 |
| 700 1# - ADDED ENTRY--PERSONAL NAME |
|---|
| Personal name |
Gouw, Arvin M. |
| Relator code |
oth |
| 9 (RLIN) |
1602637 |
| 700 1# - ADDED ENTRY--PERSONAL NAME |
|---|
| Personal name |
Jaishankar, Amritha |
| Relator code |
oth |
| 9 (RLIN) |
1602638 |
| 700 1# - ADDED ENTRY--PERSONAL NAME |
|---|
| Personal name |
Brooks, George A. |
| Relator code |
oth |
| 9 (RLIN) |
1602639 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS |
|---|
| Host name |
www.oapen.org |
| Uniform Resource Identifier |
<a href="https://www.frontiersin.org/research-topics/5679/applying-next-generation-sequencing-and-transgenic-models-to-rare-disease-research#overview">https://www.frontiersin.org/research-topics/5679/applying-next-generation-sequencing-and-transgenic-models-to-rare-disease-research#overview</a> |
| -- |
0 |
| Public note |
DOAB: download the publication |
| 856 40 - ELECTRONIC LOCATION AND ACCESS |
|---|
| Host name |
www.oapen.org |
| Uniform Resource Identifier |
<a href="https://directory.doabooks.org/handle/20.500.12854/73676">https://directory.doabooks.org/handle/20.500.12854/73676</a> |
| -- |
0 |
| Public note |
DOAB: description of the publication |
