المؤلفون: Kennedy, Ann M., Inada, Masaki, Krane, Stephen M., Christie, Paul T., Harding, Brian, López-Otín, Carlos, Sánchez, Luis M., Pannett, Anna A J, Dearlove, Andrew, Hartley, Claire, Byrne, Michael H., Reed, Anita A C, Nesbit, M. Andrew, Whyte, Michael P., Thakker, Rajesh V.

المصدر: Kennedy , A M , Inada , M , Krane , S M , Christie , P T , Harding , B , López-Otín , C , Sánchez , L M , Pannett , A A J , Dearlove , A , Hartley , C , Byrne , M H , Reed , A A C , Nesbit , M A , Whyte , M P & Thakker , R V 2005 , ' MP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMDMO) ' , Journal of Clinical Investigation , vol. 115 , no. 10 , pp. 2832-2842 . https://doi.org/10.1172/JCI22900

مصطلحات موضوعية: genetics: Amino Acid Substitution, Binding Sites, genetics: Bone Remodeling, Cell Line, enzymology: Chromosome Disorders, genetics: Chromosomes, Human, Pair 11, metabolism: Collagen Type II, genetics: Collagenases, Female, Gene Expression, Humans, growth & development: Leg Bones, Lod Score, Male, Matrix Metalloproteinase 13, genetics: Matrix Metalloproteinase 9, genetics: Mutation, Missense, enzymology: Osteochondrodysplasias, Pedigree, Protein Folding, genetics: Quantitative Trait Loci, growth & development: Spine

Relation: https://research.manchester.ac.uk/en/publications/707cd388-f08a-49dc-9efe-d86c4518f8db

الاتاحة: https://research.manchester.ac.uk/en/publications/707cd388-f08a-49dc-9efe-d86c4518f8db
https://doi.org/10.1172/JCI22900