When analyzed in the context of the phenylalanine hydroxylase (PAH) three-dimensional structure, only a minority of the PKU mutations described world-wide affect catalytic residues. Consistent with these observations, recent data point to defective folding and subsequent aggregation/degradation as a
✦ LIBER ✦
Functional analysis of RUNX2 mutations in cleidocranial dysplasia: novel insights into genotype–phenotype correlations
✍ Scribed by Taketoshi Yoshida; Hirokazu Kanegane; Motomi Osato; Masatoshi Yanagida; Toshio Miyawaki; Yoshiaki Ito; Katsuya Shigesada
- Book ID
- 117726491
- Publisher
- Elsevier Science
- Year
- 2003
- Tongue
- English
- Weight
- 377 KB
- Volume
- 30
- Category
- Article
- ISSN
- 1079-9796
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