Mutations in LPAR6/P2RY5 and LIPH are associated with woolly hair and/or hypotrichosis

Antzeko izenburuak

• Founder mutations in the lipase H (LIPH) gene in families with autosomal recessive woolly hair/hypotrichosis
  nork: Shimomura, Yutaka, et al.
  Argitaratua: (2009)
• Mutations in the LIPH gene in three Japanese families with autosomal recessive woolly hair/hypotrichosis
  nork: Shimomura, Yutaka, et al.
  Argitaratua: (2009)
• Autosomal recessive woolly hair with hypotrichosis caused by a novel homozygous mutation in the P2RY5 gene
  nork: Shimomura, Yutaka, et al.
  Argitaratua: (2008)
• Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture
  nork: Shimomura, Yutaka, et al.
  Argitaratua: (2010)
• The Effect of Inbreeding on the Distribution of Compound Heterozygotes: A Lesson from Lipase H Mutations in Autosomal Recessive Woolly Hair/Hypotrichosis
  nork: Petukhova, Lynn, et al.
  Argitaratua: (2009)