Gene Regulatory Sequences and Human Disease (Record no. 101116)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 02992nam a22004815i 4500 |
| 001 - CONTROL NUMBER | |
| control field | 978-1-4614-1683-8 |
| 003 - CONTROL NUMBER IDENTIFIER | |
| control field | DE-He213 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20140220083243.0 |
| 007 - PHYSICAL DESCRIPTION FIXED FIELD--GENERAL INFORMATION | |
| fixed length control field | cr nn 008mamaa |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 120530s2012 xxu| s |||| 0|eng d |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| International Standard Book Number | 9781461416838 |
| -- | 978-1-4614-1683-8 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1007/978-1-4614-1683-8 |
| Source of number or code | doi |
| 050 #4 - LIBRARY OF CONGRESS CALL NUMBER | |
| Classification number | RB155-155.8 |
| 050 #4 - LIBRARY OF CONGRESS CALL NUMBER | |
| Classification number | QH431 |
| 072 #7 - SUBJECT CATEGORY CODE | |
| Subject category code | MFN |
| Source | bicssc |
| 072 #7 - SUBJECT CATEGORY CODE | |
| Subject category code | MED107000 |
| Source | bisacsh |
| 082 04 - DEWEY DECIMAL CLASSIFICATION NUMBER | |
| Classification number | 611.01816 |
| Edition number | 23 |
| 082 04 - DEWEY DECIMAL CLASSIFICATION NUMBER | |
| Classification number | 599.935 |
| Edition number | 23 |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Ahituv, Nadav. |
| Relator term | editor. |
| 245 10 - TITLE STATEMENT | |
| Title | Gene Regulatory Sequences and Human Disease |
| Medium | [electronic resource] / |
| Statement of responsibility, etc | edited by Nadav Ahituv. |
| 264 #1 - | |
| -- | New York, NY : |
| -- | Springer New York : |
| -- | Imprint: Springer, |
| -- | 2012. |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | X, 283 p. 29 illus., 24 illus. in color. |
| Other physical details | online resource. |
| 336 ## - | |
| -- | text |
| -- | txt |
| -- | rdacontent |
| 337 ## - | |
| -- | computer |
| -- | c |
| -- | rdamedia |
| 338 ## - | |
| -- | online resource |
| -- | cr |
| -- | rdacarrier |
| 347 ## - | |
| -- | text file |
| -- | |
| -- | rda |
| 505 0# - FORMATTED CONTENTS NOTE | |
| Formatted contents note | Gene regulatory elements -- The Hemoglobin regulatory regions -- Regulatory polymorphisms and osteoporosis -- Gene regulation in Van Buchem disease -- Cis-regulatory enhancer mutations are a cause of human limb malformations -- Regulatory mutations leading to cleft lip and palate -- Cis-regulatory disruption at the SOX9 locus as a cause of Pierre Robin Sequence -- Regulatory mutations in human hereditary deafness -- The contributions of RET non-coding variation to Hirschprung disease -- Cis-regulatory variation and cancer -- Cohesin and human diseases -- Epigenetics and human disease -- Index. |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc | Genes make up less than 2% of our DNA and within the remaining 98% lie other extremely important sequences that function as gene regulatory elements, instructing genes when, where and at what levels to turn on or off. In this book, we introduce the different types of gene regulatory elements and how to identify and functionally characterize them. In addition, we describe several pioneering examples of how mutations in these elements have been found to cause human disease.With advances in DNA sequencing, the ability to identify disease-associated mutations in these regulatory elements is rapidly increasing. This book provides a great starting point for clinicians, geneticists, genomicists, developmental biologists and computational biologists to understand how to identify gene regulatory elements and associate nucleotide variation within them to human disease. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | Medicine. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | Human genetics. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | Biological models. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | Developmental biology. |
| 650 14 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | Biomedicine. |
| 650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | Human Genetics. |
| 650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | Developmental Biology. |
| 650 24 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | Systems Biology. |
| 710 2# - ADDED ENTRY--CORPORATE NAME | |
| Corporate name or jurisdiction name as entry element | SpringerLink (Online service) |
| 773 0# - HOST ITEM ENTRY | |
| Title | Springer eBooks |
| 776 08 - ADDITIONAL PHYSICAL FORM ENTRY | |
| Display text | Printed edition: |
| International Standard Book Number | 9781461416821 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | http://dx.doi.org/10.1007/978-1-4614-1683-8 |
| 912 ## - | |
| -- | ZDB-2-SBL |
No items available.