A Novel 4 bp Deletion Mutation in the FALDH Gene Segregating in a Turkish Family with Sjögren–Larsson Syndrome Michel A.A.P. Willemsen, Peter M. Steijlen,

Slides:

Advertisements

Similar presentations

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

Advertisements

Design and Multiseries Validation of a Web-Based Gene Expression Assay for Predicting Breast Cancer Recurrence and Patient Survival Ryan K. Van Laar The.

Francesca Capon Journal of Investigative Dermatology

Next-Generation Sequencing: Methodology and Application

Novel Mutations in the BHD Gene and Absence of Loss of Heterozygosity in Fibrofolliculomas of Birt-Hogg-Dubé Patients Maurice A.M. van Steensel, Valerie.

Clinical Snippets Journal of Investigative Dermatology

Irwin Freedberg: Physician-Scientist and Mentor

Placebo Effects on Itch: A Meta-Analysis of Clinical Trials of Patients with Dermatological Conditions Antoinette I.M. van Laarhoven, Ineke M. van der.

Databases for Clinical Research

Susana H. Kofman-Alfaro, Ana L. Jimenez Vaca, Sergio A

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

Modeling Atopic Dermatitis with Increasingly Complex Mouse Models

Brooke–Spiegler Syndrome Locus Assigned to 16q12-q13

Robert S. Stern Journal of Investigative Dermatology

Laurent Gouya Journal of Investigative Dermatology

Circulating Tumor Cells and Melanoma Progression

Irwin Freedberg, Odysseus for Our Generation

A Recurrent Intragenic Deletion Mutation in DSG4 Gene in Three Pakistani Families with Autosomal Recessive Hypotrichosis Muhammad Arshad Rafiq, Muhammad.

Meeting Report from Frontiers in Ichthyosis Research

Francois le Pelletier, Anne Janin Journal of Investigative Dermatology

The Thinning Top: Why Old People Have Less Hair

Full Sequencing of the FLG Gene in Italian Patients with Atopic Eczema: Evidence of New Mutations, but Lack of an Association Raffaella Cascella, Valeria.

Alice Pentland Journal of Investigative Dermatology

Clinical Snippets Journal of Investigative Dermatology

Minutes of the Board of Directors Meeting

Star Trek Publishing Journal of Investigative Dermatology

Feras M. Hantash, Arlene Rebuyon, Mei Peng, Joy B

JID VisualDx Quiz: May 2014 Journal of Investigative Dermatology

Journal of Investigative Dermatology

Journal of Investigative Dermatology

A Novel Arginine→Serine Mutation in EDA1 in a Japanese Family with X-Linked Anhidrotic Ectodermal Dysplasia Noriaki Aoki, Kaoru Ito, Toshiaki Tachibana,

Novel ALDH3A2 Heterozygous Mutations in a Japanese Family with Sjögren–Larsson Syndrome Kaori Sakai, Masashi Akiyama, Tomoyuki Watanabe, Kazunori Sanayama,

Jonathan I. Silverberg, Nanette B. Silverberg

Maternal Transmission of the 3 bp Deletion within Exon 7 of the STS Gene in Steroid Sulfatase Deficiency Margarita Valdes-Flores Journal of Investigative.

Society for Investigative Dermatology 2010 Meeting Minutes

Journal of Investigative Dermatology

Democratizing the Clinical Trials Agenda in Dermatology

Maria T. García-Romero, Roberto Arenas

BJD Editor's Choice Journal of Investigative Dermatology

The Viral Etiology of Skin Cancer

Research Snippets Journal of Investigative Dermatology

Clinical Snippets Journal of Investigative Dermatology

Journal of Investigative Dermatology

How Much Sun Protection Is Needed

Wook Lew Journal of Investigative Dermatology

Genetic Influences on Human Body Odor: From Genes to the Axillae

Novel CDKN2A Mutations Detected in Western Swedish Families with Hereditary Malignant Melanoma Anna Erlandson, Frida Appelqvist, Ann-Marie Wennberg,

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

Research Snippets from the British Journal of Dermatology

Melanocyte Regeneration in Vitiligo Requires WNT beneath their Wings

25 Years of Epidermal Stem Cell Research

Journal of Investigative Dermatology

Promoter Hypermethylation of the O6-Methylguanine DNA Methyltransferase Gene and Microsatellite Instability in Metastatic Melanoma Maija R.J. Kohonen-Corish,

Research Snippets Journal of Investigative Dermatology

Journal of Investigative Dermatology

Conceptual Issues in Measuring the Burden of Skin Diseases

Clouston Syndrome Can Mimic Pachyonychia Congenita

Anthony M. Raizis, Martin M. Ferguson, David T. Nicholls, Derek W

Genetic Association Between an AACC Insertion in the 3′UTR of the Stratum Corneum Chymotryptic Enzyme Gene and Atopic Dermatitis Y. Vasilopoulos, M.J.

Consequences of Psychological Distress in Adolescents with Acne

Ellen Pfendner, Jouni Uitto Journal of Investigative Dermatology

Journal of Investigative Dermatology

Journal of Investigative Dermatology

Activation of B-raf in Non-Malignant Nevi Predicts a Novel Tumor Suppressor Gene in Melanoma (MAP Kinase Phosphatase) Jack L. Arbiser Journal of Investigative.

Paradoxical Effects of Sphingosine-1-Phosphate

Spectrum of PTCH1 Mutations in French Patients with Gorlin Syndrome

Journal of Investigative Dermatology

The Environment and Human Health

Innate Immunity Stimulates Permeability Barrier Homeostasis

A Phenotype Resembling the Clouston Syndrome with Deafness Is Associated with a Novel Missense GJB2 Mutation Maurice A.M. van Steensel, Peter M. Steijlen,

Presentation transcript:

A Novel 4 bp Deletion Mutation in the FALDH Gene Segregating in a Turkish Family with Sjögren–Larsson Syndrome Michel A.A.P. Willemsen, Peter M. Steijlen, Jan G.N. de Jong, Jan J. Rotteveel, Lodewijk Ijlst, Michiel A. van Werkhoven, Ronald J.A. Wanders Journal of Investigative Dermatology Volume 112, Issue 5, Pages 827-828 (May 1999) DOI: 10.1046/j.1523-1747.1999.00574.x Copyright © 1999 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Electropherogram of a control subject, patient 1 (the identical pattern of patient 2 is not shown). and both parents. The sequence surrounding the 4 bp deletion (1384–1387delGAAA, indicated by an arrow) in the FALDH gene is shown. Journal of Investigative Dermatology 1999 112, 827-828DOI: (10.1046/j.1523-1747.1999.00574.x) Copyright © 1999 The Society for Investigative Dermatology, Inc Terms and Conditions