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A YAC contig spanning the blepharophimosis-ptosis-epicanthus inversus syndrome and propionic acidemia loci.

A YAC contig spanning the blepharophimosis-ptosis-epicanthus inversus syndrome and propionic acidemia loci. Eur J Hum Genet. 1997 May-Jun; 5(3):171-4.

View in: PubMed

subject areas
  • Amino Acid Metabolism, Inborn Errors
  • Blepharophimosis
  • Blepharoptosis
  • Carboxy-Lyases
  • Chromosome Mapping
  • Chromosomes, Artificial, Yeast
  • Chromosomes, Human, Pair 3
  • DNA Primers
  • Female
  • Fluorescent Antibody Technique, Indirect
  • Genetic Markers
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infertility, Female
  • Methylmalonyl-CoA Decarboxylase
  • Polymerase Chain Reaction
  • Polymorphism, Genetic
  • Propionates
  • Repetitive Sequences, Nucleic Acid
  • Sequence Tagged Sites
  • Syndrome

authors with profiles
  • Robert M. Gemmill