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Full-Text Articles in Medicine and Health Sciences

Detection Of Filaggrin Gene Mutation (2282del4) In Pakistani Ichthyosis Vulgaris Families., Naghma Naz, Azam J. Samdani Jun 2011

Detection Of Filaggrin Gene Mutation (2282del4) In Pakistani Ichthyosis Vulgaris Families., Naghma Naz, Azam J. Samdani

Department of Medicine

The aim of this study was to detect an 811 bp filaggrin (FLG) gene fragment known to carry a mutation 2282del4 which causes ichthyosis vulgaris. Seven clinically examined ichthyosis vulgaris families were included in this study. An 811 bp FLG gene fragment was targeted in the genomic DNA of all the members of the seven families by PCR amplification using known primers RPT1P7 and RPT2P1. Successful amplification of an 811 bp FLG gene fragment in all the families suggested the possible role of the 2282del4 mutation in causing ichthyosis vulgaris in Pakistani population.


Progressive Symmetric Erythrokeratoderma, Sevasti Margetas Do, Stephen Purcell Do Jan 2011

Progressive Symmetric Erythrokeratoderma, Sevasti Margetas Do, Stephen Purcell Do

Department of Medicine

No abstract provided.


Atypical Lymphocytic Lobular Panniculitis: A Distinct Eentity In The Spectrum Of Cutaneous Lymphoid Dyscrasia, Lusia S. Yi Do, Ms, Nicole Bright Do, Stephen Purcell Do Jan 2011

Atypical Lymphocytic Lobular Panniculitis: A Distinct Eentity In The Spectrum Of Cutaneous Lymphoid Dyscrasia, Lusia S. Yi Do, Ms, Nicole Bright Do, Stephen Purcell Do

Department of Medicine

No abstract provided.


Oral Fixed Drug Eruption Secondary To Isoniazid, Tanya Ermolovich Do, Tatyana Groysman Do Jan 2011

Oral Fixed Drug Eruption Secondary To Isoniazid, Tanya Ermolovich Do, Tatyana Groysman Do

Department of Medicine

No abstract provided.


Plexiform Neurofibroma Associated With Nf1, Stephen M. Purcell Do, Tatyana Groysman Do Jan 2011

Plexiform Neurofibroma Associated With Nf1, Stephen M. Purcell Do, Tatyana Groysman Do

Department of Medicine

No abstract provided.