𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype

✍ Scribed by Grosch, Melanie; Grüner, Barbara; Spranger, Stephanie; Stütz, Adrian M.; Rausch, Tobias; Korbel, Jan O.; Seelow, Dominik; Nürnberg, Peter; Sticht, Heinrich; Lausch, Ekkehart; Zabel, Bernhard; Winterpacht, Andreas; Tagariello, Andreas


Book ID
122404837
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
943 KB
Volume
32
Category
Article
ISSN
0945-053X

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Phenotypic expressions of a Gly154Arg mu
✍ Kaitila, I.; Körkkö, J.; Marttinen, E.; Ala-Kokko, L. 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 76 KB

Q p e I1 collagenopathies consist of chondrodysplasias ranging from lethal to mild in severity. A large number of mutations has been found in the COL2A1 gene. Glycine substitutions have been the most common types of mutation. Genotype-phenotype cor- relations in type I1 collagenopathies have not bee