Presentation is loading. Please wait.

Presentation is loading. Please wait.

Mutations of MLC1 (KIAA0027), Encoding a Putative Membrane Protein, Cause Megalencephalic Leukoencephalopathy with Subcortical Cysts Peter A.J. Leegwater,

Published byAlvin Jenkins Modified over 8 years ago

Similar presentations

Presentation on theme: "Mutations of MLC1 (KIAA0027), Encoding a Putative Membrane Protein, Cause Megalencephalic Leukoencephalopathy with Subcortical Cysts Peter A.J. Leegwater,"— Presentation transcript:

1 Mutations of MLC1 (KIAA0027), Encoding a Putative Membrane Protein, Cause Megalencephalic Leukoencephalopathy with Subcortical Cysts Peter A.J. Leegwater, Bao Qiang Yuan, Jeffrey van der Steen, Joyce Mulders, Andrea A.M. Könst, P. K. Ilja Boor, Vlatka Mejaski- Bosnjak, Silvère M. van der Maarel, Rune R. Frants, Cees B.M. Oudejans, Ruud B.H. Schutgens, Jan C. Pronk, Marjo S. van der Knaap The American Journal of Human Genetics Volume 68, Issue 4, Pages 831-838 (April 2001) DOI: 10.1086/319519 Copyright © 2001 The American Society of Human Genetics Terms and Conditions Terms and Conditions

2 Figure 1 The American Journal of Human Genetics 2001 68, 831-838DOI: (10.1086/319519) Copyright © 2001 The American Society of Human Genetics Terms and Conditions Terms and Conditions

3 Figure 2 The American Journal of Human Genetics 2001 68, 831-838DOI: (10.1086/319519) Copyright © 2001 The American Society of Human Genetics Terms and Conditions Terms and Conditions

4 Figure 3 The American Journal of Human Genetics 2001 68, 831-838DOI: (10.1086/319519) Copyright © 2001 The American Society of Human Genetics Terms and Conditions Terms and Conditions

Download ppt "Mutations of MLC1 (KIAA0027), Encoding a Putative Membrane Protein, Cause Megalencephalic Leukoencephalopathy with Subcortical Cysts Peter A.J. Leegwater,"

Similar presentations

Tethered Polymer-Supported Planar Lipid Bilayers for Reconstitution of Integral Membrane Proteins: Silane-Polyethyleneglycol-Lipid as a Cushion and Covalent.

Tethered Polymer-Supported Planar Lipid Bilayers for Reconstitution of Integral Membrane Proteins: Silane-Polyethyleneglycol-Lipid as a Cushion and Covalent.
De Novo Facioscapulohumeral Muscular Dystrophy: Frequent Somatic Mosaicism, Sex- Dependent Phenotype, and the Role of Mitotic Transchromosomal Repeat Interaction.

De Novo Facioscapulohumeral Muscular Dystrophy: Frequent Somatic Mosaicism, Sex- Dependent Phenotype, and the Role of Mitotic Transchromosomal Repeat Interaction.
A Mutation in the Dimerization Domain of Filamin C Causes a Novel Type of Autosomal Dominant Myofibrillar Myopathy Matthias Vorgerd, Peter F.M. van der.

A Mutation in the Dimerization Domain of Filamin C Causes a Novel Type of Autosomal Dominant Myofibrillar Myopathy Matthias Vorgerd, Peter F.M. van der.
How Do Thermophilic Proteins and Proteomes Withstand High Temperature? Lucas Sawle, Kingshuk Ghosh Biophysical Journal Volume 101, Issue 1, Pages 217-227.

How Do Thermophilic Proteins and Proteomes Withstand High Temperature? Lucas Sawle, Kingshuk Ghosh Biophysical Journal Volume 101, Issue 1, Pages
Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome Michel De Vos, Bruce E. Hayward, Susan Picton, Eamonn.

Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome Michel De Vos, Bruce E. Hayward, Susan Picton, Eamonn.
Ubiquitous L1 Mosaicism in Hippocampal Neurons Kyle R. Upton, Daniel J. Gerhardt, J. Samuel Jesuadian, Sandra R. Richardson, Francisco J. Sánchez-Luque,

Ubiquitous L1 Mosaicism in Hippocampal Neurons Kyle R. Upton, Daniel J. Gerhardt, J. Samuel Jesuadian, Sandra R. Richardson, Francisco J. Sánchez-Luque,
A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in Evolution Edgar Otto, Julia Hoefele, Rainer.

A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in Evolution Edgar Otto, Julia Hoefele, Rainer.
Linkage Analysis of Extremely Discordant and Concordant Sibling Pairs Identifies Quantitative Trait Loci Influencing Variation in Human Menopausal Age.

Linkage Analysis of Extremely Discordant and Concordant Sibling Pairs Identifies Quantitative Trait Loci Influencing Variation in Human Menopausal Age.
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.

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.

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.

Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and.
Tryptophan-Lipid Interactions in Membrane Protein Folding Probed by Ultraviolet Resonance Raman and Fluorescence Spectroscopy Katheryn M. Sanchez, Guipeun.

Tryptophan-Lipid Interactions in Membrane Protein Folding Probed by Ultraviolet Resonance Raman and Fluorescence Spectroscopy Katheryn M. Sanchez, Guipeun.
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.

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,

Differential Relationship of DNA Replication Timing to Different Forms of Human Mutation and Variation Amnon Koren, Paz Polak, James Nemesh, Jacob J. Michaelson,
Functional Analysis of the Neurofibromatosis Type 2 Protein by Means of Disease- Causing Point Mutations Renee P. Stokowski, David R. Cox The American.

Functional Analysis of the Neurofibromatosis Type 2 Protein by Means of Disease- Causing Point Mutations Renee P. Stokowski, David R. Cox The American.
Thermal Fluctuations of Red Blood Cell Membrane via a Constant-Area Particle- Dynamics Model Gianluca Marcelli, Kim H. Parker, C. Peter Winlove Biophysical.

Thermal Fluctuations of Red Blood Cell Membrane via a Constant-Area Particle- Dynamics Model Gianluca Marcelli, Kim H. Parker, C. Peter Winlove Biophysical.
Gene Preference in Maple Syrup Urine Disease Mary M. Nellis, Dean J. Danner The American Journal of Human Genetics Volume 68, Issue 1, Pages 232-237 (January.

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

Alternative Splicing QTLs in European and African Populations Halit Ongen, Emmanouil T. Dermitzakis The American Journal of Human Genetics Volume 97, Issue.
Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome Sarah B. Pierce,

Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome Sarah B. Pierce,
De Novo BRCA1 Mutation in a Patient with Breast Cancer and an Inherited BRCA2 Mutation Andrea Tesoriero, Chris Andersen, Melissa Southey, Gino Somers,

De Novo BRCA1 Mutation in a Patient with Breast Cancer and an Inherited BRCA2 Mutation Andrea Tesoriero, Chris Andersen, Melissa Southey, Gino Somers,

Similar presentations

Ads by Google