caa a22 4500 467985790 CHVBK 20180323112531.0 cr unu---uuuuu 170328e19901001xx s 000 0 eng 10.1007/BF00194230 doi (NATIONALLICENCE)springer-10.1007/BF00194230 Amplification of the COL2A1 3′ variable region used for segregation analysis in a family with the Stickler syndrome [Elektronische Daten] [Linda Priestley, D. Kumar, Bryan Sykes] Summary: Amplification of a variable region 3′ to the human type II collagen gene (COL2A1) has permitted segregation analysis in a three generation Stickler syndrome pedigree. This family had previously proved uninformative for the known restriction fragment length dimorphisms. Amplification of the variable region revealed five distinguishable alleles, of which three were segregating in this family. The lod score in favour of linkage was 2.86 at zero recombination. Springer-Verlag, 1990 Priestley Linda Collagen Genetics Group, University of Oxford, Institute of Molecular Medicine, John Radcliffe Hospital, OX3 9DU, Oxford, UK aut Kumar D. Centre for Human Genetics, Langhill, 117 Manchester Road, S105DN, Sheffield, UK aut Sykes Bryan Collagen Genetics Group, University of Oxford, Institute of Molecular Medicine, John Radcliffe Hospital, OX3 9DU, Oxford, UK aut Human Genetics Springer-Verlag 85/5(1990-10-01), 525-526 0340-6717 85:5<525 1990 85 439 https://doi.org/10.1007/BF00194230 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00194230 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Priestley Linda Collagen Genetics Group, University of Oxford, Institute of Molecular Medicine, John Radcliffe Hospital, OX3 9DU, Oxford, UK aut NATIONALLICENCE 700 1- Kumar D. Centre for Human Genetics, Langhill, 117 Manchester Road, S105DN, Sheffield, UK aut NATIONALLICENCE 700 1- Sykes Bryan Collagen Genetics Group, University of Oxford, Institute of Molecular Medicine, John Radcliffe Hospital, OX3 9DU, Oxford, UK aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 85/5(1990-10-01), 525-526 0340-6717 85:5<525 1990 85 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer