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A Mutation in the Amino-Terminal End of the Triple Helix of Type II Collagen Causing Severe Osteochondrodysplasia

✍ Scribed by Miikka Vikkula; Pertti Ritvaniemi; Alpo F. Vuorio; Ilkka Kaitila; Leena Ala-Kokko; Leena Peltonen


Book ID
115611549
Publisher
Elsevier Science
Year
1993
Tongue
English
Weight
364 KB
Volume
16
Category
Article
ISSN
0888-7543

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Concentration of mutations causing schmi
✍ Iain McIntosh; Margaret H. Abbott; Clair A. Francomano πŸ“‚ Article πŸ“… 1995 πŸ› John Wiley and Sons 🌐 English βš– 579 KB

Schmid metaphyseal chondrodysplasia (SMCD) has previously been shown to be the result of mutations in the type X collagen gene, COLlOAl. A further three mutations have been identified, including two nonsense mutations (YZ68X, W651X) and a frameshift mutation (1856delCC). Each of the 10 SMCD mutation