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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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Autori principali: Shimomura, Yutaka, Wajid, Muhammad, Zlotogorski, Abraham, Lee, Young Jin, Rice, Robert H., Christiano, Angela M.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2009
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Accesso online: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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