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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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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2012
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3470015/ https://ncbi.nlm.nih.gov/pubmed/23066499 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep00730 |
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