Concepedia

Autosomal Recessive Disorder Otospondylomegaepiphyseal Dysplasia Is Associated with Loss-of-Function Mutations in the COL11A2 Gene

Miia Melkoniemi, Han G. Brunner, Sylvie Manouvrier, Raoul C. M. Hennekam, Andrea Superti‐Furga, Helena Kääriäinen, Richard M. Pauli, Ton van Essen, Matthew L. Warman, Jacky Bonaventure,

The American Journal of Human Genetics · 2000 · 95 citations · 20 references

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References

20

Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes.

Arupa Ganguly, Matthew J. Rock, Darwin J. Prockop · Proceedings of the National Academy of Sciences · 1993 · 677 citations

, , +11

Extracellular matrix assembly and structure

General Pharmacology The Vascular System · 1995 · 450 citations

, , +12

Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus

Miikka Vikkula, Edwin C.M Madman, Vincent Chi Hang Lui et al. · Cell · 1995 · 409 citations · Full text

, , +9

A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis

Y Li, D.A Lacerda, Matthew L. Warman et al. · Cell · 1995 · 378 citations · Full text

, , +14

A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen

Allan J. Richards · Human Molecular Genetics · 1996 · 305 citations

, , +16