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Founder mutations in the lipase H (LIPH) gene in families with autosomal recessive woolly hair/hypotrichosis
Autosomal recessive woolly hair (ARWH)/hypotrichosis is a hereditary hair disorder which is characterized by tightly curled hair, and is occasionally associated with sparse hair. ARWH can be caused by mutations in the P2RY5 or lipase H (LIPH) gene. Disruption of both genes results in phenotypes with...
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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2009
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2859194/ https://ncbi.nlm.nih.gov/pubmed/19262606 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jid.2009.19 |
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