Author:
Toriello Helga V.,Glover Thomas W.,Takahara Kazuhiko,Byers Peter H.,Miller Diane E.,Higgins James V.,Greenspan Daniel S.
Publisher
Springer Science and Business Media LLC
Reference35 articles.
1. Beighton, P., Ehlers-Danlos syndromes, in McKusick's Heritable Disorders of Connective Tissue, 5th edn. (ed. Beighton, P.) 189–251 (Mosby-Year Book Inc., St. Louis, 1993).
2. Byers, P.H. Disorders of collagen biosynthesis and structure, in The Metabolic and Molecular Bases of Inherited Disease, 7th edn. (eds Scriver, C.R., Beaudet, A.L., Sly, W.S. & Valle, D.) 4029–4077 (McGraw-Hill, New York, 1995).
3. Prockop, D.J. & Kivirikko, K.I. Collagens: molecular biology, diseases, and potentials for therapy. Annu. Rev. Biochem. 64, 403–434 (1995).
4. Hyland, J. et al. A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers-Danlos syndrome type VI. Nature Genet. 2, 228–231 (1992).
5. Kaler, S.G. et al. Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. Nature Genet. 8, 195–202 (1994).
Cited by
112 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献