To access publisher full text version of this article. Please click on the hyperlink in Additional Links fieldPURPOSE: To identify CHST6 mutations in five additional Icelandic cases of macular corneal dystrophy (MCD) type I and in four families with MCD type II from Iceland. METHODS: Genomic DNA was extracted from blood leukocytes of patients with MCD, their healthy family members, and from control individuals. CHST6 mutations were determined by PCR-sequencing. Immunophenotypes of MCD were determined by measuring antigenic keratan sulfate (AgKS) levels in serum and by an immunohistochemical study on corneal tissue. RESULTS: Five additional cases of MCD type I and four families with MCD type II from Iceland were studied. A homozygous p.A128V...
Inherited retinal and corneal dystrophies represent a group of disorders with great genetic heteroge...
Abstract Background Macular corneal dystrophy (MCD) is a rare corneal stromal dystrophy with bilater...
Macular corneal dystrophy (MCD) is an autosomal recessive disorder characterized by grayish white op...
To access publisher full text version of this article. Please click on the hyperlink in Additional L...
Macular corneal dystrophy (MCD) is an autosomal recessive disease characterized by corneal opacities...
PURPOSE: Macular corneal dystrophy (MCD) is a rare corneal dystrophy that is characterized by abnorm...
patients with macular corneal dystrophy Purpose: To characterize mutations within the carbohydrate s...
Purpose: To examine the carbohydrate sulfotransferase 6 (CHST6) gene in Chinese patients with macula...
Purpose: Macular corneal dystrophy (MCD) is an autosomal recessive disorder characterized by progres...
Aim: To identify the underlying genetic defect in Egyptian patients with macular corneal dystrophy ...
Purpose. Macular corneal dystrophy (MCD) is a rare autosomal recessive disorder that is characterize...
Purpose: Macular corneal dystrophy (MCD) is a systemic autosomal recessive disorder involving lumica...
ObjectiveMacular Corneal Dystrophy (MCD) is a rare autosomal recessive disorder affecting the stroma...
Objective Macular Corneal Dystrophy (MCD) is a rare autosomal recessive disorder affecting the strom...
Purpose To identify pathogenic variations in carbohydrate sulfotransferase 6 (CHST6) and transformin...
Inherited retinal and corneal dystrophies represent a group of disorders with great genetic heteroge...
Abstract Background Macular corneal dystrophy (MCD) is a rare corneal stromal dystrophy with bilater...
Macular corneal dystrophy (MCD) is an autosomal recessive disorder characterized by grayish white op...
To access publisher full text version of this article. Please click on the hyperlink in Additional L...
Macular corneal dystrophy (MCD) is an autosomal recessive disease characterized by corneal opacities...
PURPOSE: Macular corneal dystrophy (MCD) is a rare corneal dystrophy that is characterized by abnorm...
patients with macular corneal dystrophy Purpose: To characterize mutations within the carbohydrate s...
Purpose: To examine the carbohydrate sulfotransferase 6 (CHST6) gene in Chinese patients with macula...
Purpose: Macular corneal dystrophy (MCD) is an autosomal recessive disorder characterized by progres...
Aim: To identify the underlying genetic defect in Egyptian patients with macular corneal dystrophy ...
Purpose. Macular corneal dystrophy (MCD) is a rare autosomal recessive disorder that is characterize...
Purpose: Macular corneal dystrophy (MCD) is a systemic autosomal recessive disorder involving lumica...
ObjectiveMacular Corneal Dystrophy (MCD) is a rare autosomal recessive disorder affecting the stroma...
Objective Macular Corneal Dystrophy (MCD) is a rare autosomal recessive disorder affecting the strom...
Purpose To identify pathogenic variations in carbohydrate sulfotransferase 6 (CHST6) and transformin...
Inherited retinal and corneal dystrophies represent a group of disorders with great genetic heteroge...
Abstract Background Macular corneal dystrophy (MCD) is a rare corneal stromal dystrophy with bilater...
Macular corneal dystrophy (MCD) is an autosomal recessive disorder characterized by grayish white op...