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Novel phenotypes identified by plasma biochemical screening in the mouse

✍ Scribed by Tertius A. Hough; Patrick M. Nolan; Vicky Tsipouri; Ayo A. Toye; Ian C. Gray; Michelle Goldsworthy; Lee Moir; Roger D. Cox; Sian Clements; Peter H. Glenister; John Wood; Rachael L. Selley; Mark A. Strivens; Lucie Vizor; Stefan L. McCormack; Josephine Peters; Elizabeth M. Fisher; Nigel Spurr; Sohaila Rastan; Joanne E. Martin; Steve D.M. Brown; A. Jacqueline Hunter


Book ID
106014893
Publisher
Springer-Verlag
Year
2002
Tongue
English
Weight
434 KB
Volume
13
Category
Article
ISSN
0938-8990

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Carbonic anhydrase II deficiency syndrom
✍ Gul N. Shah; Giuseppe Bonapace; Peiyi Y. Hu; Pietro Strisciuglio; William S. Sly πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 319 KB

The carbonic anhydrase II (CA II) deficiency syndrome is an autosomal recessive disorder that produces osteopetrosis, renal tubular acidosis, and cerebral calcification. Other features include developmental delay, short stature, cognitive defects, and a history of multiple fractures by adolescence.