Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype.

Elahi, Elahe; Kalhor, Reza; Banihosseini, Setareh S; Torabi, Noorossadat; Pour-Jafari, Hamid; Houshmand, Massoud; Amini, Seyed S H; Ramezani, Ahmad; Loeys, Bart

Elahi, Elahe; Kalhor, Reza; Banihosseini, Setareh S; Torabi, Noorossadat; Pour-Jafari, Hamid; Houshmand, Massoud; Amini, Seyed S H; Ramezani, Ahmad; Loeys, Bart.

Affiliation

Elahi E; National Institute for Genetic Engineering and Biotechnology, Tehran, Iran. elahe.elahi@acnet.ir

J Invest Dermatol ; 126(7): 1506-9, 2006 Jul.

Article in En | MEDLINE | ID: mdl-16691202

Subject(s)

Cutis Laxa/genetics; Extracellular Matrix Proteins/genetics; Genes, Recessive/genetics; Mutation, Missense/genetics; Adolescent; Cutis Laxa/diagnosis; DNA Mutational Analysis; Extracellular Matrix Proteins/physiology; Female; Genetic Linkage; Haplotypes/genetics; Homozygote; Humans; Iran; Male; Pedigree; Turkey

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Collection: 01-internacional Database: MEDLINE Main subject: Extracellular Matrix Proteins / Mutation, Missense / Cutis Laxa / Genes, Recessive Type of study: Diagnostic_studies / Risk_factors_studies Limits: Adolescent / Female / Humans / Male Country/Region as subject: Asia Language: En Journal: J Invest Dermatol Year: 2006 Type: Article Affiliation country: Iran

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