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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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Bibliografiske detaljer
Main Authors: Tariq, Muhammad, Azhar, Aysha, Baig, Shahid Mahmood, Dahl, Niklas, Klar, Joakim
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2012
Fag:
Online adgang: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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