Novel phenotypes identified by plasma biochemical screening in the mouse
β 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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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.