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03612nam a22004935i 4500 |
| 003 - CONTROL NUMBER IDENTIFIER |
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| control field |
OSt |
| 005 - DATE AND TIME OF LATEST TRANSACTION |
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| control field |
20140310150244.0 |
| 007 - PHYSICAL DESCRIPTION FIXED FIELD--GENERAL INFORMATION |
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| fixed length control field |
cr nn 008mamaa |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION |
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130129s2012 gw | s |||| 0|eng d |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER |
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| International Standard Book Number |
9783642328640 |
|
978-3-642-32864-0 |
| 050 #4 - LIBRARY OF CONGRESS CALL NUMBER |
|---|
| Classification number |
RB155-155.8 |
|
|---|
| Classification number |
QH431 |
| 082 04 - DEWEY DECIMAL CLASSIFICATION NUMBER |
|---|
| Classification number |
611.01816 |
| Edition number |
23 |
|
|---|
| Classification number |
599.935 |
| Edition number |
23 |
| 264 #1 - |
|---|
| -- |
Berlin, Heidelberg : |
| -- |
Springer Berlin Heidelberg : |
| -- |
Imprint: Springer, |
| -- |
2012. |
| 912 ## - |
|---|
| -- |
ZDB-2-SBL |
| 100 1# - MAIN ENTRY--PERSONAL NAME |
|---|
| Personal name |
Upadhyaya, Meena. |
| Relator term |
editor. |
| 245 10 - IMMEDIATE SOURCE OF ACQUISITION NOTE |
|---|
| Title |
Neurofibromatosis Type 1 |
| Medium |
[electronic resource] : |
| Remainder of title |
Molecular and Cellular Biology / |
| Statement of responsibility, etc |
edited by Meena Upadhyaya, David N. Cooper. |
| 300 ## - PHYSICAL DESCRIPTION |
|---|
| Extent |
XVI, 717 p. 75 illus., 60 illus. in color. |
| Other physical details |
online resource. |
| 505 0# - FORMATTED CONTENTS NOTE |
|---|
| Formatted contents note |
From the Contents: von Recklinghausen disease -- Clinical diagnosis and atypical cases -- Management and treatment of NF1: complex UK NF1 clinics -- Mortality in NF1 -- The cognitive profile of NF1 children, therapeutic implications -- Clinical expression of NF1 in monozygotic twins -- Whole body MRI studies in NF1 patients -- Quality of Life in NF1 -- NF1 gene: promoter, 3’UTR and complex features -- Germline mutational spectrum of NF1 and Genotype-Phenotype Correlations -- Splicing mechanisms and mutations in the NF1 gene -- NF1 Germline and somatic mosaicism -- Deep intronic NF1 mutations and possible therapeutic interventions -- NF1 microdeletions and mutational mechanisms -- NF1 somatic mutational spectrum -- Social Stigma in NF1 -- Personalized Medicine in NF1 -- Future Directions - Where do we go from here. |
| 520 ## - SUMMARY, ETC. |
|---|
| Summary, etc |
Neurofibromatosis type 1 (NF1), caused by mutational inactivation of the NF1 tumour suppressor gene, is one of the most common dominantly inherited human disorders, affecting 1 in 3000 individuals worldwide. This book presents in concise fashion, but as comprehensively as possible, our current state of knowledge on the molecular genetics, molecular biology and cellular biology of this tumour predisposition syndrome. Written by internationally recognized experts in the field, the 44 chapters that constitute this edited volume provide the reader with a broad overview of the clinical features of the disease, the structure and expression of the NF1 gene, its germ line and somatic mutational spectra and genotype-phenotype relationships, the structure and function of its protein product (neurofibromin), NF1 modifying loci, the molecular pathology of NF1-associated tumours, animal models of the disease, psycho-social aspects and future prospects for therapeutic treatment. Neurofibromatosis Type 1: Molecular and Cellular Biology will be of great value to medical geneticists, molecular and cellular biologists, oncologists, dermatologists, neurologists, genetic counsellors and general practitioners alike. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
|---|
| Topical term or geographic name as entry element |
Medicine. |
|
|---|
| Topical term or geographic name as entry element |
Oncology. |
|
|---|
| Topical term or geographic name as entry element |
Human genetics. |
|
|---|
| Topical term or geographic name as entry element |
Neurosciences. |
|
|---|
| Topical term or geographic name as entry element |
Biomedicine. |
|
|---|
| Topical term or geographic name as entry element |
Human Genetics. |
|
|---|
| Topical term or geographic name as entry element |
Cancer Research. |
|
|---|
| Topical term or geographic name as entry element |
Oncology. |
|
|---|
| Topical term or geographic name as entry element |
Molecular Medicine. |
|
|---|
| Topical term or geographic name as entry element |
Neurosciences. |
| 700 1# - ADDED ENTRY--PERSONAL NAME |
|---|
| Personal name |
Cooper, David N. |
| Relator term |
editor. |
| 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 |
9783642328633 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS |
|---|
| Uniform Resource Identifier |
http://dx.doi.org/10.1007/978-3-642-32864-0 |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) |
|---|
| Source of classification or shelving scheme |
|
| Item type |
E-Book |
