Seventeen novel mutations that cause profound biotinidase deficiency.

Wolf B., Jensen K., Huner G. F., Demirkol M., Baykal T., Divry P., ...Daha Fazla

Molecular genetics and metabolism, cilt.77, ss.108-11, 2002 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 77
  • Basım Tarihi: 2002
  • Doi Numarası: 10.1016/s1096-7192(02)00149-x
  • Dergi Adı: Molecular genetics and metabolism
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.108-11
  • Anahtar Kelimeler: biotinidase deficiency, biotinidase, mutation, IDENTIFICATION, GENE
  • İstanbul Üniversitesi Adresli: Hayır

Özet

We report 17 novel mutations that cause profound biotinidase deficiency. Six of the mutations are due to deletions, whereas the remaining I I mutations are missense mutations located throughout the gene and encode amino acids that are conserved in mammals. Our results increase the total number of different mutations that cause biotinidase deficiency to 79. These additional mutations will undoubtedly be helpful in identifying structure/function relationships once the three-dimensional structure of biotinidase is determined. (C) 2002 Elsevier Science (USA). All rights reserved.