A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa

PURPOSE: To identify the gene mutations responsible for autosomal recessive retinitis pigmentosa (arRP) in Pakistani families. METHODS: A cohort of consanguineous families with typical RP phenotype in patients was screened by homozygosity mapping using microsatellite markers that mapped close to 21...

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Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Azam, Maleeha, Khan, Muhammad Imran, Gal, Andreas, Hussain, Alamdar, Shah, Syed Tahir Abbas, Khan, Muhammad Shakil, Sadeque, Ahmed, Bokhari, Habib, Collin, Rob W.J., Orth, Ulrike, van Genderen, Maria M., den Hollander, A.I., Cremers, Frans P. M., Qamar, Raheel
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Molecular Vision 2009
Θέματα:
Research Article
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2787306/
https://ncbi.nlm.nih.gov/pubmed/19960070
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