Deletions and duplications of Gly-Xaa-Yaa triplet repeats in the triple helical domains of type I collagen chains disrupt helix formation and result in several types of osteogenesis imperfecta

Deletions and duplications of Gly-Xaa-Yaa triplet repeats in the triple helical domains of type I collagen chains disrupt helix formation and result in several types of osteogenesis imperfecta

Item
http://www.wikidata.org/entity/Q57197790
Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationshipsMutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathyOsteogenic stem cell selection for repair and regenerationA single amino acid substitution (D1441Y) in the carboxyl-terminal propeptide of the proalpha1(I) chain of type I collagen results in a lethal variant of osteogenesis imperfecta with features of dense bone diseases.Bone mineral properties in growing Col1a2(+/G610C) mice, an animal model of osteogenesis imperfectaBone architecture: collagen structure and calcium/phosphorus mapsNew perspectives on osteogenesis imperfectaType I collagen triplet duplication mutation in lethal osteogenesis imperfecta shifts register of alpha chains throughout the helix and disrupts incorporation of mutant helices into fibrils and extracellular matrix.Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome.Novel COL1A1 Mutation c.3290G>T Associated With Severe Form of Osteogenesis Imperfecta in a Fetus.Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance
P2860

Deletions and duplications of Gly-Xaa-Yaa triplet repeats in the triple helical domains of type I collagen chains disrupt helix formation and result in several types of osteogenesis imperfecta

Item
http://www.wikidata.org/entity/Q57197790
description
im Oktober 2001 veröffentlichter wissenschaftlicher Artikel
@de
scientific article published on 01 October 2001
@en
wetenschappelijk artikel
@nl
наукова стаття, опублікована у 2001
@uk
name
Deletions and duplications of ...... pes of osteogenesis imperfecta
@en
Deletions and duplications of ...... pes of osteogenesis imperfecta
@nl
type
label
Deletions and duplications of ...... pes of osteogenesis imperfecta
@en
Deletions and duplications of ...... pes of osteogenesis imperfecta
@nl
prefLabel
Deletions and duplications of ...... pes of osteogenesis imperfecta
@en
Deletions and duplications of ...... pes of osteogenesis imperfecta
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698
P921
P356
P1433
P1476
Deletions and duplications of ...... pes of osteogenesis imperfecta
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698
P921