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Author/Creator Spranger, J

3. Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W. Issue 1 (1st January 2003)

Authors:
Ballhausen, D; Bonafé, L; Terhal, P; Unger, S L; Bellus, G; Classen, M; Hamel, B C; Spranger, J; Zabel, B; Cohn, D H; Cole, W G; Hecht, J T; Superti-Furga, A
Journal:
Journal of medical genetics
Issue:
Volume 40:Issue 1(2003)
Page Start:
65
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

5. The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia. Issue 8 (August 1996)

Authors:
Winterpacht, A; Superti-Furga, A; Schwarze, U; Stöss, H; Steinmann, B; Spranger, J; Zabel, B
Journal:
Journal of medical genetics
Issue:
Volume 33:Issue 8(1996)
Page Start:
649
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗