𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency

✍ Scribed by Pomponio, Robert J.; Reynolds, Thomas R.; Cole, Heath; Buck, Gregory A.; Wolf, Barry


Book ID
109917933
Publisher
Nature Publishing Group
Year
1995
Tongue
English
Weight
454 KB
Volume
11
Category
Article
ISSN
1061-4036

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Mutations in BTD causing biotinidase def
✍ Jeanne Hymes; Christine M. Stanley; Barry Wolf πŸ“‚ Article πŸ“… 2001 πŸ› John Wiley and Sons 🌐 English βš– 289 KB

Communicated by Linda Tyfield Biotinidase (BTD) is the only enzyme that can cleave biocytin, a product of the proteolytic digestion of holocarboxylases. Profound BTD deficiency (less than 10% mean normal activity in serum) is an autosomal recessive disorder that can result in neurological and cutane

Double mutation (A171T) and (D444H) is a
✍ Karen J. Norrgard; Robert J. Pomponio; Katie L. Swango; Jeanne Hymes; Thomas Rey πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 356 KB πŸ‘ 1 views

Biotinidase deficiency is inherited as an autosomal recessive trait that, unless treated with pharmacologic doses of biotin, can result in neurologic and cutaneous symptoms. We have identified two new mutations in exon D of the biotinidase gene of children with profound biotinidase deficiency ascert