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Publication Detail
Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic
  • Publication Type:
    Journal article
  • Publication Sub Type:
  • Authors:
    Houlden H, Lincoln S, Farrer M, Cleland PG, Hardy J, Orrell RW
  • Publication date:
  • Pagination:
    1423, 1426
  • Journal:
  • Volume:
  • Issue:
  • Print ISSN:
  • Keywords:
    abnormalities, ABNORMALITY, clinical, families, family, Family Members, GENE, Genotype, Heterozygote, IM, LA, lipid, local, MEMBERS, Mutation, MUTATIONS, Other, Patient, Phenotype, REGION, Retinitis Pigmentosa, Syndrome
  • Notes:
    DA - 20031125 IS - 1526-632X LA - eng PT - Journal Article SB - AIM SB - IM
The authors describe a patient with hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP) who has two compound heterozygote mutations of the PANK2 gene. IVS4-1 G>T segregates with the lipid and erythrocyte changes in the mother and sister. No other family members have the lipid, erythrocyte, or clinical abnormalities. The father and two brothers are heterozygous for Met327Thr. One other mutation has been found in this PANK2 region associated with the HARP phenotype, suggesting a local genotype effect
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