Clinical manifestations of type IV collagen mutations can vary from the severe, clinically and genetically heterogeneous renal disorder, Alport syndrome, to autosomal dominant familial benign hematuria. The predominant form of Alport syndrome is X-linked; more than 160 different mutations have yet b
β¦ LIBER β¦
The mutational spectrum of brachydactyly type C
β Scribed by Everman, David B. ;Bartels, Cynthia F. ;Yang, Yue ;Yanamandra, Niranjan ;Goodman, Frances R. ;Mendoza-Londono, J. Roberto ;Savarirayan, Ravi ;White, Susan M. ;Graham, John M. ;Gale, Robert Peter ;Svarch, Eva ;Newman, William G. ;Kleckers, Albert R. ;Francomano, Clair A. ;Govindaiah, Vinukonda ;Singh, Lalji ;Morrison, Stuart ;Thomas, J. Terrig ;Warman, Matthew L.
- Publisher
- John Wiley and Sons
- Year
- 2002
- Tongue
- English
- Weight
- 194 KB
- Volume
- 112
- Category
- Article
- ISSN
- 0148-7299
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