A novel <it>HSF4 </it>gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan

• Main Authors: Cheema Abdul (Author), Kakar Naseebullah (Author), Goebel Ingrid (Author), Sajjad Naheed (Author), Kubisch Christian (Author), Ahmad Jamil (Author)
• Format: Knjiga
• Izdano: BMC, 2008-11-01T00:00:00Z.
• Teme: article
• Online dostop: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>Hereditary cataracts are most frequently inherited as autosomal dominant traits, but can also be inherited in an autosomal recessive or X-linked fashion. To date, 12 loci for autosomal recessive cataracts have been mapped including a...