Functional Analysis of the Neurofibromatosis Type 2 Protein by Means of Disease- Causing Point Mutations Renee P. Stokowski, David R. Cox The American.

Slides:

Advertisements

Similar presentations

How Do Thermophilic Proteins and Proteomes Withstand High Temperature? Lucas Sawle, Kingshuk Ghosh Biophysical Journal Volume 101, Issue 1, Pages

Advertisements

Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome Michel De Vos, Bruce E. Hayward, Susan Picton, Eamonn.

Nuclear and Mitochondrial DNA Analysis of a 2,000-Year-Old Necropolis in the Egyin Gol Valley of Mongolia Christine Keyser-Tracqui, Eric Crubézy, Bertrand.

TFIIH Subunit Alterations Causing Xeroderma Pigmentosum and Trichothiodystrophy Specifically Disturb Several Steps during Transcription Amita Singh, Emanuel.

Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and.

Connexin Mutations in Skin Disease and Hearing Loss David P. Kelsell, Wei-Li Di, Mark J. Houseman The American Journal of Human Genetics Volume 68, Issue.

Differential Relationship of DNA Replication Timing to Different Forms of Human Mutation and Variation Amnon Koren, Paz Polak, James Nemesh, Jacob J. Michaelson,

Gene Preference in Maple Syrup Urine Disease Mary M. Nellis, Dean J. Danner The American Journal of Human Genetics Volume 68, Issue 1, Pages (January.

X-Ray Absorption Spectroscopy of Dinuclear Metallohydrolases David L. Tierney, Gerhard Schenk Biophysical Journal Volume 107, Issue 6, Pages

Alternative Splicing QTLs in European and African Populations Halit Ongen, Emmanouil T. Dermitzakis The American Journal of Human Genetics Volume 97, Issue.

A Hydrodynamic Model for Hindered Diffusion of Proteins and Micelles in Hydrogels Ronald J. Phillips Biophysical Journal Volume 79, Issue 6, Pages

Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part I: Methods and Power Analysis Douglas F. Levinson, Matthew D. Levinson, Ricardo Segurado,

Mesoscale Simulation of Blood Flow in Small Vessels Prosenjit Bagchi Biophysical Journal Volume 92, Issue 6, Pages (March 2007) DOI: /biophysj

Genomewide Comparison of DNA Sequences between Humans and Chimpanzees Ingo Ebersberger, Dirk Metzler, Carsten Schwarz, Svante Pääbo The American Journal.

Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery Herbert A. Lubs, Roger E. Stevenson, Charles E. Schwartz The American Journal.

Maple Syrup Urine Disease: Identification and Carrier-Frequency Determination of a Novel Founder Mutation in the Ashkenazi Jewish Population Lisa Edelmann,

2015 Alzheimer's disease facts and figures Alzheimer's & Dementia: The Journal of the Alzheimer's Association Volume 11, Issue 3, Pages (March.

Low-Dose Aspirin in Patients with Stable Cardiovascular Disease: A Meta-analysis Jeffrey S. Berger, MD, MS, David L. Brown, MD, Richard C. Becker, MD The.

2002 Air Medical Transport Industry Awards Air Medical Journal Volume 22, Issue 2, Pages (March 2003) DOI: /S X(03) Copyright.

Celiac Disease Genetics: Current Concepts and Practical Applications Ludvig M. Sollid, Benedicte A. Lie Clinical Gastroenterology and Hepatology Volume.

The Duty to Recontact: Attitudes of Genetics Service Providers Jennifer L. Fitzpatrick, Cecil Hahn, Teresa Costa, Marlene J. Huggins The American Journal.

Peopling of Sahul: mtDNA Variation in Aboriginal Australian and Papua New Guinean Populations Alan J. Redd, Mark Stoneking The American Journal of Human.

Enterococcus faecalis Induces Inflammatory Bowel Disease in Interleukin-10 Knockout Mice Edward Balish, Thomas Warner The American Journal of Pathology.

Colloquium on Therapy of Right Heart Failure

National Guidelines for Nursing Delegation

The Trimmed-Haplotype Test for Linkage Disequilibrium

Air Pollution and Chest Disease

Anna Middleton, J. Hewison, R.F. Mueller

Transmission/Disequilibrium Tests for Extended Marker Haplotypes

Anna Middleton, J. Hewison, R.F. Mueller

Rapid Simulation of P Values for Product Methods and Multiple-Testing Adjustment in Association Studies S.R. Seaman, B. Müller-Myhsok The American Journal.

Quiz Page March 2008 American Journal of Kidney Diseases

An Unknown Genetic Defect Increases Venous Thrombosis Risk, through Interaction with Protein C Deficiency Sandra J. Hasstedt, Edwin G. Bovill, Peter.

2016 Curt Stern Award Address: From Rare to Common Diseases: Translating Genetic Discovery to Therapy1 Brendan Lee The American Journal of Human Genetics

Linkage Thresholds for Two-stage Genome Scans

Genetics, Individuality, and Medicine in the 21st Century*

Predictors of the Risk of Mortality in Neurofibromatosis 2

GeneTests: Integrating Genetic Services into Patient Care*

Sang Hong Lee, Naomi R. Wray, Michael E. Goddard, Peter M. Visscher

Introductory Speech for Sir David Weatherall*

The SNP Endgame: A Multidisciplinary Approach*

Erratum The American Journal of Human Genetics

American Journal of Kidney Diseases

Quiz Page April 2008 American Journal of Kidney Diseases

Benjamin A. Rybicki, Robert C. Elston

Volume 17, Issue 2, Pages (February 1950)

Journal of Investigative Dermatology

Volume 69, Issue 12, Pages (June 2006)

Volume 69, Issue 3, Pages (February 2006)

Increasing the Power and Efficiency of Disease-Marker Case-Control Association Studies through Use of Allele-Sharing Information Tasha E. Fingerlin,

Society for Investigative Dermatology 2010 Meeting Minutes

Greg L. Loeben, Theresa M. Marteau, Benjamin S. Wilfond

Quiz Page August 2007 American Journal of Kidney Diseases

Reviewer Acknowledgment

Metabolic Vulnerability in Melanoma: A ME2 (Me Too) Story

Conceptual Issues in Measuring the Burden of Skin Diseases

Quiz page answers August 2003

This Month in AJKD American Journal of Kidney Diseases

This Month in AJKD American Journal of Kidney Diseases

Discussion The Journal of Thoracic and Cardiovascular Surgery

The Environment and Human Health

Volume 4, Issue 3, Pages (March 2018)

Systems Biophysics: Multiscale Biophysical Modeling of Organ Systems

Alice S. Whittemore, Jerry Halpern

Anna Middleton, J. Hewison, R.F. Mueller

Hannah R. Elliott, David C. Samuels, James A. Eden, Caroline L

Quiz page December 2003 American Journal of Kidney Diseases

This Month in AJKD American Journal of Kidney Diseases

A Chromosomal Deletion Map of Human Malformations

A Review of First-Line Treatment for Small-cell Lung Cancer

Presentation transcript:

Functional Analysis of the Neurofibromatosis Type 2 Protein by Means of Disease- Causing Point Mutations Renee P. Stokowski, David R. Cox The American Journal of Human Genetics Volume 66, Issue 3, Pages (March 2000) DOI: / Copyright © 2000 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Figure 1 The American Journal of Human Genetics , DOI: ( /302812) Copyright © 2000 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Figure 2 The American Journal of Human Genetics , DOI: ( /302812) Copyright © 2000 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Figure 3 The American Journal of Human Genetics , DOI: ( /302812) Copyright © 2000 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Figure 4 The American Journal of Human Genetics , DOI: ( /302812) Copyright © 2000 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Figure 5 The American Journal of Human Genetics , DOI: ( /302812) Copyright © 2000 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Figure 6 The American Journal of Human Genetics , DOI: ( /302812) Copyright © 2000 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Figure 6 The American Journal of Human Genetics , DOI: ( /302812) Copyright © 2000 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Figure 6 The American Journal of Human Genetics , DOI: ( /302812) Copyright © 2000 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Figure 7 The American Journal of Human Genetics , DOI: ( /302812) Copyright © 2000 The American Society of Human Genetics Terms and Conditions Terms and Conditions