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Page 1
An allele of COL9A2 associated with intervertebral disc disease.
Science. 1999 Jul 16;285(5426):409-12. doi: 10.1126/science.285.5426.409.
Science. 1999.
PMID: 10411504
COL9A3: A third locus for multiple epiphyseal dysplasia.
Paassilta P, Lohiniva J, Annunen S, Bonaventure J, Le Merrer M, Pai L, Ala-Kokko L.
Paassilta P, et al. Among authors: annunen s.
Am J Hum Genet. 1999 Apr;64(4):1036-44. doi: 10.1086/302328.
Am J Hum Genet. 1999.
PMID: 10090888
Free PMC article.
Item in Clipboard
Human COL9A1 and COL9A2 genes. Two genes of 90 and 15 kb code for similar polypeptides of the same collagen molecule.
Pihlajamaa T, Vuoristo MM, Annunen S, Perälä M, Prockop DJ, Ala-Kokko L.
Pihlajamaa T, et al. Among authors: annunen s.
Matrix Biol. 1998 Jul;17(3):237-41. doi: 10.1016/s0945-053x(98)90063-4.
Matrix Biol. 1998.
PMID: 9707347
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Conformation sensitive gel electrophoresis for simple and accurate detection of mutations: comparison with denaturing gradient gel electrophoresis and nucleotide sequencing.
Körkkö J, Annunen S, Pihlajamaa T, Prockop DJ, Ala-Kokko L.
Körkkö J, et al. Among authors: annunen s.
Proc Natl Acad Sci U S A. 1998 Feb 17;95(4):1681-5. doi: 10.1073/pnas.95.4.1681.
Proc Natl Acad Sci U S A. 1998.
PMID: 9465076
Free PMC article.
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Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.
Annunen S, Körkkö J, Czarny M, Warman ML, Brunner HG, Kääriäinen H, Mulliken JB, Tranebjaerg L, Brooks DG, Cox GF, Cruysberg JR, Curtis MA, Davenport SL, Friedrich CA, Kaitila I, Krawczynski MR, Latos-Bielenska A, Mukai S, Olsen BR, Shinno N, Somer M, Vikkula M, Zlotogora J, Prockop DJ, Ala-Kokko L.
Annunen S, et al.
Am J Hum Genet. 1999 Oct;65(4):974-83. doi: 10.1086/302585.
Am J Hum Genet. 1999.
PMID: 10486316
Free PMC article.
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Complete sequence of the 23-kilobase human COL9A3 gene. Detection of Gly-X-Y triplet deletions that represent neutral variants.
Paassilta P, Pihlajamaa T, Annunen S, Brewton RG, Wood BM, Johnson CC, Liu J, Gong Y, Warman ML, Prockop DJ, Mayne R, Ala-Kokko L.
Paassilta P, et al. Among authors: annunen s.
J Biol Chem. 1999 Aug 6;274(32):22469-75. doi: 10.1074/jbc.274.32.22469.
J Biol Chem. 1999.
PMID: 10428822
Free article.
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