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

BACKGROUND: 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 locus on chromosome 16q22 containing the disease-causi...

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Detalles Bibliográficos
Autores principales: Sajjad, Naheed, Goebel, Ingrid, Kakar, Naseebullah, Cheema, Abdul Majeed, Kubisch, Christian, Ahmad, Jamil
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2008
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2592245/
https://www.ncbi.nlm.nih.gov/pubmed/19014451
http://dx.doi.org/10.1186/1471-2350-9-99

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2592245/
https://www.ncbi.nlm.nih.gov/pubmed/19014451
http://dx.doi.org/10.1186/1471-2350-9-99

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