Conformation Sensitive Gel Electrophoresis for Simple and Accurate Detection of Mutations: Comparison with Denaturing Gradient Gel Electrophoresis and Nucleotide Sequencing
Korkko, Jarmo, Annunen, Susanna, Pihlajamaa, Tero, Prockop, Darwin J., Ala-Kokko, Leena
Published in Proceedings of the National Academy of Sciences - PNAS (17.02.1998)
Published in Proceedings of the National Academy of Sciences - PNAS (17.02.1998)
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Journal Article
Splicing Mutations of 54-bp Exons in the COL11A1 Gene Cause Marshall Syndrome, but Other Mutations Cause Overlapping Marshall/Stickler Phenotypes
Annunen, Susanna, Körkkö, Jarmo, Czarny, Malwina, Warman, Matthew L., Brunner, Han G., Kääriäinen, Helena, Mulliken, John B., Tranebjærg, Lisbeth, Brooks, David G., Cox, Gerald F., Cruysberg, Johan R., Curtis, Mary A., Davenport, Sandra L.H., Friedrich, Christopher A., Kaitila, Ilkka, Krawczynski, Maciej Robert, Latos-Bielenska, Anna, Mukai, Shitzuo, Olsen, Björn R., Shinno, Nancy, Somer, Mirja, Vikkula, Miikka, Zlotogora, Joel, Prockop, Darwin J., Ala-Kokko, Leena
Published in American journal of human genetics (01.10.1999)
Published in American journal of human genetics (01.10.1999)
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Journal Article
COL9A3: A Third Locus for Multiple Epiphyseal Dysplasia
Paassilta, Petteri, Lohiniva, Jaana, Annunen, Susanna, Bonaventure, Jacky, Le Merrer, Martine, Pai, Lori, Ala-Kokko, Leena
Published in American journal of human genetics (01.04.1999)
Published in American journal of human genetics (01.04.1999)
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Journal Article
Complete Sequence of the 23-Kilobase Human COL9A3Gene
Petteri Paassilta, Tero Pihlajamaa, Susanna Annunen, Randolph G. Brewton, Brian M. Wood, Cameron C. Johnson, Jiangang Liu, Yaoqin Gong, Matthew L. Warman, Darwin J. Prockop, Richard Mayne, Leena Ala-Kokko
Published in The Journal of biological chemistry (06.08.1999)
Published in The Journal of biological chemistry (06.08.1999)
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Journal Article
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, R G, Wood, B M, Johnson, C C, Liu, J, Gong, Y, Warman, M L, Prockop, D J, Mayne, R, Ala-Kokko, L
Published in The Journal of biological chemistry (06.08.1999)
Published in The Journal of biological chemistry (06.08.1999)
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Journal Article
Compositions and methods for detecting altered COL1A1 gene sequences
ANNUNEN SUSANNA, SEREDA LARISA, WESTERHAUSEN LARSON ANDREA, COLIGE ALAIN, VUORISTO MIRKO, ALA-KOKKO LEENA, DELTAS CONSTANTINOS D, SPOTILA LORETTA D, PAASSILTA PETTERI, KOERKKOE JARMO, EARLY JAMES, PROCKOP DARWIN J, PACK MICHAEL, PIHLAJAMAA TERO
Year of Publication 24.07.2001
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Year of Publication 24.07.2001
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