𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Unusual electrophoretic mobility of α2(I) collagen chain caused by a Gly421 to Asp substitution in a lethal case of osteogenesis imperfecta

✍ Scribed by A. Forlino; J.C. Marini


Book ID
117640427
Publisher
Elsevier Science
Year
1996
Tongue
English
Weight
213 KB
Volume
15
Category
Article
ISSN
0945-053X

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Lethal perinatal osteogenesis imperfecta
✍ John F. Bateman; Ingrid Moeller; Marnie Hannagan; Danny Chan; William G. Cole 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 787 KB

A single base mismatch was detected by a chemical cleavage method in heteroduplexes formed between patient mRNA and a control collagen aZ(1) cDNA probe in a case of osteogenesis imperfecta type 11. The region of the mRNA mismatch was amplified using the polymerase chain reaction, cloned and sequence

A Gly859Ser substitution in the triple h
✍ Nicola J. Rose; Katrina Mackay; Peter H. Byers; Raymond Dalgleish 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 624 KB

## Clinical Data on Patients KO was 35 years of age at the time her cell strain was sent to us. She was born to healthy unrelated parents and has two healthy siblings, both of whom have unaffected children, and no other individuals with 0 1 were identified in the family. She had many fractures at

Substitution of arginine for glycine at
✍ Zhuang, Jiapiao; Tromp, Gerard; Kuivaniemi, Helena; Castells, Salvador; Prockop, 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 33 KB 👁 1 views

A substitution of arginine for glycine at amino acid position 154 of the al(1) collagen chain was found in a father and his three children. The phenotype of the patients includes manifestations of types I and IIUIV osteogenesis imperfecta, but appears to be milder than that of the previously describ