Presentation is loading. Please wait.

Presentation is loading. Please wait.

Common Mutations in Arg304 of the p63 Gene in Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome: Lack of Genotype–Phenotype Correlation and Implications.

Published byØrnulf Edvardsen Modified over 5 years ago

Similar presentations

Presentation on theme: "Common Mutations in Arg304 of the p63 Gene in Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome: Lack of Genotype–Phenotype Correlation and Implications."— Presentation transcript:

1 Common Mutations in Arg304 of the p63 Gene in Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome: Lack of Genotype–Phenotype Correlation and Implications for Mutation Detection Strategies  Takahiro Hamada, Ien Chan, John A. McGrath  Journal of Investigative Dermatology  Volume 119, Issue 5, Pages (November 2002) DOI: /j x Copyright © 2002 The Society for Investigative Dermatology, Inc Terms and Conditions

2 Figure 1 Restriction endonuclease digestion of PCR products spanning exon 8 of p63 using HpaII shows that the heterozygous presence of the mutations R304Q and R304W results in loss of a solitary HpaII cutsite on one allele. In control DNA (cont), the PCR product is completely digested into fragments 199– and 153– bp in size. By contrast there is an additional undigested band of 352– bp in amplifiled mutant DBA. (MW=0X174 HpaII molecular weight marker). Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 2002 The Society for Investigative Dermatology, Inc Terms and Conditions

Download ppt "Common Mutations in Arg304 of the p63 Gene in Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome: Lack of Genotype–Phenotype Correlation and Implications."

Similar presentations

Amy M. Dworkin, Stephanie Y. Tseng, Dawn C. Allain, O

Amy M. Dworkin, Stephanie Y. Tseng, Dawn C. Allain, O
Detection of Exon 12 Mutations in the JAK2 Gene

Detection of Exon 12 Mutations in the JAK2 Gene
Next-Generation Sequencing for Mutation Detection in Heritable Skin Diseases: The Paradigm of Pseudoxanthoma Elasticum  Andrew P. South, Qiaoli Li, Jouni.

Next-Generation Sequencing for Mutation Detection in Heritable Skin Diseases: The Paradigm of Pseudoxanthoma Elasticum  Andrew P. South, Qiaoli Li, Jouni.
Francesca Capon  Journal of Investigative Dermatology 

Francesca Capon  Journal of Investigative Dermatology 
Herlitz Junctional Epidermolysis Bullosa: Novel and Recurrent Mutations in the LAMB3 Gene and the Population Carrier Frequency  Aoi Nakano, Ellen Pfendner,

Herlitz Junctional Epidermolysis Bullosa: Novel and Recurrent Mutations in the LAMB3 Gene and the Population Carrier Frequency  Aoi Nakano, Ellen Pfendner,
Next-Generation Sequencing: Methodology and Application

Next-Generation Sequencing: Methodology and Application
Correction to: “Journal of Investigative Dermatology” advance online publication, 9 April 2015; doi:10.1038/jid.2015.107  Emilie S. Chan, Leal C. Herlitz,

Correction to: “Journal of Investigative Dermatology” advance online publication, 9 April 2015; doi: /jid   Emilie S. Chan, Leal C. Herlitz,
Combination of a Novel Frameshift Mutation (1929delCA) and a Recurrent Nonsense Mutation (W610X) of the LAMB3 Gene in a Japanese Patient with Herlitz.

Combination of a Novel Frameshift Mutation (1929delCA) and a Recurrent Nonsense Mutation (W610X) of the LAMB3 Gene in a Japanese Patient with Herlitz.
A Comparative Study of Fibrous Dysplasia and Osteofibrous Dysplasia with Regard to GSα Mutation at the Arg201 Codon  Akio Sakamoto, Yoshinao Oda, Yukihide.

A Comparative Study of Fibrous Dysplasia and Osteofibrous Dysplasia with Regard to GSα Mutation at the Arg201 Codon  Akio Sakamoto, Yoshinao Oda, Yukihide.
Aoi Nakano, Hajime Nakano, Sal LaForgia, Leena Pulkkinen, Jouni Uitto 

Aoi Nakano, Hajime Nakano, Sal LaForgia, Leena Pulkkinen, Jouni Uitto 
Detection of Exon 12 Mutations in the JAK2 Gene

Detection of Exon 12 Mutations in the JAK2 Gene
Splice Site and Deletion Mutations in Keratin (KRT1 and KRT10) Genes: Unusual Phenotypic Alterations in Scandinavian Patients with Epidermolytic Hyperkeratosis 

Splice Site and Deletion Mutations in Keratin (KRT1 and KRT10) Genes: Unusual Phenotypic Alterations in Scandinavian Patients with Epidermolytic Hyperkeratosis 
Susana H. Kofman-Alfaro, Ana L. Jimenez Vaca, Sergio A

Susana H. Kofman-Alfaro, Ana L. Jimenez Vaca, Sergio A
A Rare Case of Hypohidrotic Ectodermal Dysplasia Caused by Compound Heterozygous Mutations in the EDAR Gene  Yutaka Shimomura, Nobuyuki Sato, Akinori.

A Rare Case of Hypohidrotic Ectodermal Dysplasia Caused by Compound Heterozygous Mutations in the EDAR Gene  Yutaka Shimomura, Nobuyuki Sato, Akinori.
High Frequency of Loss of Heterozygosity on Chromosome Region 9p21–p22 but Lack of p16INK4a/p19ARF Mutations in Greek Patients with Basal Cell Carcinoma.

High Frequency of Loss of Heterozygosity on Chromosome Region 9p21–p22 but Lack of p16INK4a/p19ARF Mutations in Greek Patients with Basal Cell Carcinoma.
Laurent Gouya  Journal of Investigative Dermatology 

Laurent Gouya  Journal of Investigative Dermatology 
Andrew Rowan, Ian Tomlinson  Journal of Investigative Dermatology 

Andrew Rowan, Ian Tomlinson  Journal of Investigative Dermatology 
A Homozygous Nonsense Mutation in Type XVII Collagen Gene (COL17A1) Uncovers an Alternatively Spliced mRNA Accounting for an Unusually Mild Form of Non-Herlitz.

A Homozygous Nonsense Mutation in Type XVII Collagen Gene (COL17A1) Uncovers an Alternatively Spliced mRNA Accounting for an Unusually Mild Form of Non-Herlitz.
HPV Sequences in Blood of Patients with Condyloma Acuminata

HPV Sequences in Blood of Patients with Condyloma Acuminata
Guofang Hu, Meltem Önder, Melissa Gill, Burhan Aksakal, Murat Öztas, M

Guofang Hu, Meltem Önder, Melissa Gill, Burhan Aksakal, Murat Öztas, M

Similar presentations

Ads by Google