Mapping the Ligand-binding Sites and Disease-associated Mutations on the Most Abundant Protein in the Human, Type I Collagen von Di Lullo, Gloria A., Sweeney, Shawn M., Körkkö, Jarmo, Ala-Kokko, Leena, San Antonio, James D.

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Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS von Bastepe, M, Froehlich, L F, Hendy, G N, Indridason, O S, Josse, R G, Koshiyama, H, Koerkkoe, J, Nakamoto, J M, Rosenbloom, AL, Slyper, AH, Sugimoto, T, Tsatsoulis, A, Crawford, J D, Jueppner, H

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Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients von Hartikka, Heini, Kuurila, Kaija, Körkkö, Jarmo, Kaitila, Ilkka, Grénman, Reidar, Pynnönen, Seppo, Hyland, James C., Ala-Kokko, Leena

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Conformation Sensitive Gel Electrophoresis for Simple and Accurate Detection of Mutations: Comparison with Denaturing Gradient Gel Electrophoresis and Nucleotide Sequencing von Korkko, Jarmo, Annunen, Susanna, Pihlajamaa, Tero, Prockop, Darwin J., Ala-Kokko, Leena

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Procollagen with skipping of alpha 1(I) exon 41 has lower binding affinity for alpha 1(I) C-telopeptide, impaired in vitro fibrillogenesis, and altered fibril morphology von Cabral, Wayne A, Fertala, Andrzej, Green, Laura K, Korkko, Jarmo, Forlino, Antonella, Marini, Joan C

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Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in... von Körkkö, J, Ritvaniemi, P, Haataja, L, Kääriäinen, H, Kivirikko, K I, Prockop, D J, Ala-Kokko, L

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Mutation in type II procollagen (COL2Al) that substitutes aspartate for glycine [alpha]l-67 and that causes cataracts and retinal detachment: Evidence for molecular heterogeneity i... von Koerkkoe, J., Ritvaniemi, P., Kiviirikko, K.I., Ala-Kokko, L., Haataja, L., Kaeaeriaeinen, H., Prockop, D.J.

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Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis von Körkkö, Jarmo, Cohn, Daniel H., Ala-Kokko, Leena, Krakow, Deborah, Prockop, Darwin J.

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Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability von Urpa, Lea, Kurki, Mitja I, Rahikkala, Elisa, Hämäläinen, Eija, Salomaa, Veikko, Suvisaari, Jaana, Keski-Filppula, Riikka, Rauhala, Merja, Korpi-Heikkilä, Satu, Komulainen-Ebrahim, Jonna, Helander, Heli, Vieira, Päivi, Uusimaa, Johanna, Moilanen, Jukka S, Körkkö, Jarmo, Singh, Tarjinder, Kuismin, Outi, Pietiläinen, Olli, Palotie, Aarno, Daly, Mark J

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Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and prot... von Marini, Joan C., Forlino, Antonella, Cabral, Wayne A., Barnes, Aileen M., San Antonio, James D., Milgrom, Sarah, Hyland, James C., Körkkö, Jarmo, Prockop, Darwin J., De Paepe, Anne, Coucke, Paul, Symoens, Sofie, Glorieux, Francis H., Roughley, Peter J., Lund, Alan M., Kuurila-Svahn, Kaija, Hartikka, Heini, Cohn, Daniel H., Krakow, Deborah, Mottes, Monica, Schwarze, Ulrike, Chen, Diana, Yang, Kathleen, Kuslich, Christine, Troendle, James, Dalgleish, Raymond, Byers, Peter H.

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Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita von Unger, Sheila, Korkko, Jarmo, Krakow, Deborah, Lachman, Ralph S., Rimoin, David L., Cohn, Daniel H.

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Compositions and methods for detecting altered COL1A1 gene sequences von 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

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