Presentation is loading. Please wait.

Presentation is loading. Please wait.

A Gene for Pyridoxine-Dependent Epilepsy Maps to Chromosome 5q31

Published bySudomo Lesmono Modified over 5 years ago

Similar presentations

Presentation on theme: "A Gene for Pyridoxine-Dependent Epilepsy Maps to Chromosome 5q31"— Presentation transcript:

1 A Gene for Pyridoxine-Dependent Epilepsy Maps to Chromosome 5q31
Valérie Cormier-Daire, Nathalie Dagoneau, Rima Nabbout, Lydie Burglen, Clotilde Penet, Christine Soufflet, Isabelle Desguerre, Arnold Munnich, Olivier Dulac  The American Journal of Human Genetics  Volume 67, Issue 4, Pages (October 2000) DOI: /303087 Copyright © 2000 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Pedigrees and genotype data for markers spanning the PDE-locus interval. Markers are given in order, from the p telomere to the q telomere. The region of homozygosity is blackened. The American Journal of Human Genetics  , DOI: ( /303087) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Download ppt "A Gene for Pyridoxine-Dependent Epilepsy Maps to Chromosome 5q31"

Similar presentations

Mutations in DOCK7 in Individuals with Epileptic Encephalopathy and Cortical Blindness Isabelle Perrault, Fadi F. Hamdan, Marlène Rio, José-Mario Capo-Chichi,

Mutations in DOCK7 in Individuals with Epileptic Encephalopathy and Cortical Blindness Isabelle Perrault, Fadi F. Hamdan, Marlène Rio, José-Mario Capo-Chichi,
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.
A Gene for Autosomal Recessive Symmetrical Spastic Cerebral Palsy Maps to Chromosome 2q24-25 D.P. McHale, S. Mitchell, S. Bundey, L. Moynihan, D.A. Campbell,

A Gene for Autosomal Recessive Symmetrical Spastic Cerebral Palsy Maps to Chromosome 2q24-25 D.P. McHale, S. Mitchell, S. Bundey, L. Moynihan, D.A. Campbell,
The Novel Genetic Disorder Microhydranencephaly Maps to Chromosome 16p  

The Novel Genetic Disorder Microhydranencephaly Maps to Chromosome 16p  
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.
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.
A New Locus for Autosomal Recessive Hereditary Spastic Paraplegia Maps to Chromosome 16q24.3  Giuseppe De Michele, Maurizio De Fusco, Francesca Cavalcanti,

A New Locus for Autosomal Recessive Hereditary Spastic Paraplegia Maps to Chromosome 16q24.3  Giuseppe De Michele, Maurizio De Fusco, Francesca Cavalcanti,
Anna Middleton, J. Hewison, R.F. Mueller 

Anna Middleton, J. Hewison, R.F. Mueller 
The Gene for Glycogen-Storage Disease Type 1b Maps to Chromosome 11q23

The Gene for Glycogen-Storage Disease Type 1b Maps to Chromosome 11q23
Transmission/Disequilibrium Tests for Extended Marker Haplotypes

Transmission/Disequilibrium Tests for Extended Marker Haplotypes
M. A. Escamilla, M. C. DeMille, E. Benavides, E. Roche, L. Almasy, S

M. A. Escamilla, M. C. DeMille, E. Benavides, E. Roche, L. Almasy, S
Homozygosity Mapping in Families with Joubert Syndrome Identifies a Locus on Chromosome 9q34.3 and Evidence for Genetic Heterogeneity  Kathrin Saar, Lihadh.

Homozygosity Mapping in Families with Joubert Syndrome Identifies a Locus on Chromosome 9q34.3 and Evidence for Genetic Heterogeneity  Kathrin Saar, Lihadh.
Mapping of Autosomal Dominant Osteopetrosis Type II (Albers-Schönberg Disease) to Chromosome 16p13.3  Olivier Bénichou, Erna Cleiren, Jeppe Gram, Jens.

Mapping of Autosomal Dominant Osteopetrosis Type II (Albers-Schönberg Disease) to Chromosome 16p13.3  Olivier Bénichou, Erna Cleiren, Jeppe Gram, Jens.
Anna Middleton, J. Hewison, R.F. Mueller 

Anna Middleton, J. Hewison, R.F. Mueller 
Genetic Linkage of Paget Disease of the Bone to Chromosome 18q

Genetic Linkage of Paget Disease of the Bone to Chromosome 18q
Mapping of X-Linked Myxomatous Valvular Dystrophy to Chromosome Xq28

Mapping of X-Linked Myxomatous Valvular Dystrophy to Chromosome Xq28
Localization of a Gene for Molybdenum Cofactor Deficiency, on the Short Arm of Chromosome 6, by Homozygosity Mapping  Adel Shalata, Hanna Mandel, Jochen.

Localization of a Gene for Molybdenum Cofactor Deficiency, on the Short Arm of Chromosome 6, by Homozygosity Mapping  Adel Shalata, Hanna Mandel, Jochen.
A Second Locus for Familial Generalized Epilepsy with Febrile Seizures Plus Maps to Chromosome 2q21-q33  Stéphanie Baulac, Isabelle Gourfinkel-An, Fabienne.

A Second Locus for Familial Generalized Epilepsy with Febrile Seizures Plus Maps to Chromosome 2q21-q33  Stéphanie Baulac, Isabelle Gourfinkel-An, Fabienne.
Use of Homozygosity Mapping to Identify a Region on Chromosome 1 Bearing a Defective Gene That Causes Autosomal Recessive Homozygous Hypercholesterolemia.

Use of Homozygosity Mapping to Identify a Region on Chromosome 1 Bearing a Defective Gene That Causes Autosomal Recessive Homozygous Hypercholesterolemia.
An Autosomal Dominant Thrombocytopenia Gene Maps to Chromosomal Region 10p  Anna Savoia, Maria Del Vecchio, Antonio Totaro, Silverio Perrotta, Giovanni.

An Autosomal Dominant Thrombocytopenia Gene Maps to Chromosomal Region 10p  Anna Savoia, Maria Del Vecchio, Antonio Totaro, Silverio Perrotta, Giovanni.

Similar presentations

Ads by Google