𝔖 Bobbio Scriptorium
✦   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

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Phenylketonuria: Genotype–phenotype corr
✍ Angel L. Pey; Lourdes R. Desviat; Alejandra Gámez; Magdalena Ugarte; Belén Pérez 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 272 KB

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

Functional analysis of mutations in the
✍ Yuhuan Wang; Franco Taroni; Barbara Garavaglia; Nicola Longo 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 252 KB 👁 2 views

Primary carnitine deficiency is an autosomal recessive disorder of fatty acid oxidation caused by defective carnitine transport. This disease is caused by mutations in the novel organic cation transporter OCTN2 (SLC22A5 gene). The disease can present early in life with hypoketotic hypoglycemia or la