aipl1

Key words Disease name /synonyms Definition / Diagnostic criteria Differential diagnosis Etiology Clinical description Diagnostic methods Epidemiology Genetic counseling Prenatal diagnosis Management including treatment Unresolved questions References Abstract Leber congenital amaurosis (LCA) is a retinal dystrophy and/or dysplasia of prenatal onset. About 10 to 20% of blind children are though...

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Homozygosity Mapping and Targeted Sanger Sequencing Reveal Genetic Defects Underlying Inherited Retinal Disease in Families from Pakistan

2015

Maleeha Maria Muhammad Ajmal Maleeha Azam Nadia Khalida Waheed Sorath Noorani Siddiqui Bilal Mustafa Humaira Ayub Liaqat Ali Shakeel Ahmad Shazia Micheal Alamdar Hussain Syed Tahir Abbas Shah Syeda Hafiza Benish Ali Waqas Ahmed Yar Muhammad Khan Anneke I. den Hollander Lonneke Haer-Wigman Rob W. J. Collin Muhammad Imran Khan Raheel Qamar Frans P. M. Cremers

BACKGROUND Homozygosity mapping has facilitated the identification of the genetic causes underlying inherited diseases, particularly in consanguineous families with multiple affected individuals. This knowledge has also resulted in a mutation dataset that can be used in a cost and time effective manner to screen frequent population-specific genetic variations associated with diseases such as in...

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AIPL1, a Protein Associated with Childhood Blindness, Interacts with α-Subunit of Rod Phosphodiesterase (PDE6) and Is Essential for Its Proper Assembly

Journal: :Journal of Biological Chemistry 2009

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