Caricamento...

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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Autori principali: Tariq, Muhammad, Azhar, Aysha, Baig, Shahid Mahmood, Dahl, Niklas, Klar, Joakim
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2012
Soggetti:
Accesso online: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
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !