A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair

Mutations in the lipase member H (LIPH) gene cause autosomal recessive hypotrichosis with woolly hair. We report herein on five consanguineous families from Pakistan segregating hypotrichosis and woolly hair. Genetic investigation using polymorphic microsatellite markers revealed homozygosity for a...

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Detalles Bibliográficos
Autores principales: Tariq, Muhammad, Azhar, Aysha, Baig, Shahid Mahmood, Dahl, Niklas, Klar, Joakim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2012
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3470015/
https://www.ncbi.nlm.nih.gov/pubmed/23066499
http://dx.doi.org/10.1038/srep00730

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3470015/
https://www.ncbi.nlm.nih.gov/pubmed/23066499
http://dx.doi.org/10.1038/srep00730

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