Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Imperfect collagenesis in osteogenesis imperfecta. The consequences of cysteine-glycine substitutions upon collagen structure and metabolism.

× No keyword cloud information.

5 in total

1. Clinical variability of osteogenesis imperfecta linked to COL1A2 and associated with a structural defect in the type I collagen molecule.

Authors: A Superti-Furga; F Pistone; C Romano; B Steinmann
Journal: J Med Genet Date: 1989-06 Impact factor: 6.318

2. Phenotypic variability and abnormal type I collagen unstable at body temperature in a family with mild dominant osteogenesis imperfecta.

Authors: R Tenni; P Biglino; K Dyne; A Rossi; M Filocamo; F Pendola; P Brunelli; P Buttitta; C Borrone; G Cetta
Journal: J Inherit Metab Dis Date: 1991 Impact factor: 4.982

3. Substitution of cysteine for glycine-alpha 1-691 in the pro alpha 1(I) chain of type I procollagen in a proband with lethal osteogenesis imperfecta destabilizes the triple helix at a site C-terminal to the substitution.

Authors: B Steinmann; A Westerhausen; C D Constantinou; A Superti-Furga; D J Prockop
Journal: Biochem J Date: 1991-11-01 Impact factor: 3.857

4. Radiological "metamorphosis" in a patient with severe congenital osteogenesis imperfecta.

Authors: F Pendola; C Borrone; M Filocamo; M Lituania; B Steinmann; A Superti-Furga
Journal: Eur J Pediatr Date: 1990-03 Impact factor: 3.183

5. Molecular defects of type III procollagen in Ehlers-Danlos syndrome type IV.

Authors: A Superti-Furga; B Steinmann; F Ramirez; P H Byers
Journal: Hum Genet Date: 1989-05 Impact factor: 4.132

5 in total