A Substitution of Cysteine for Glycine 904 in COL1A1 in a Proband with Lethal Osteogenesis Imperfecta and in Her Asymptomatic Mother
dc.contributor.author | Constantinou-Deltas, Constantinos D. | en |
dc.contributor.author | Pack, M. A. | en |
dc.contributor.author | Young, S. B. | en |
dc.contributor.author | Prockop, D. J. | en |
dc.creator | Constantinou-Deltas, Constantinos D. | en |
dc.creator | Pack, M. A. | en |
dc.creator | Young, S. B. | en |
dc.creator | Prockop, D. J. | en |
dc.date.accessioned | 2019-11-04T12:50:27Z | |
dc.date.available | 2019-11-04T12:50:27Z | |
dc.date.issued | 1990 | |
dc.identifier.uri | http://gnosis.library.ucy.ac.cy/handle/7/53028 | |
dc.source | Annals of the New York Academy of Sciences | en |
dc.source.uri | https://www.scopus.com/inward/record.uri?eid=2-s2.0-0025313836&doi=10.1111%2fj.1749-6632.1990.tb17984.x&partnerID=40&md5=bbc3066523bbe435cf96717964d201da | |
dc.subject | human | en |
dc.subject | female | en |
dc.subject | priority journal | en |
dc.subject | conference paper | en |
dc.subject | case report | en |
dc.subject | heredity | en |
dc.subject | fatality | en |
dc.subject | collagen type 1 | en |
dc.subject | amino acid substitution | en |
dc.subject | osteogenesis imperfecta | en |
dc.subject | proband | en |
dc.title | A Substitution of Cysteine for Glycine 904 in COL1A1 in a Proband with Lethal Osteogenesis Imperfecta and in Her Asymptomatic Mother | en |
dc.type | info:eu-repo/semantics/article | |
dc.identifier.doi | 10.1111/j.1749-6632.1990.tb17984.x | |
dc.description.volume | 580 | |
dc.description.startingpage | 540 | |
dc.description.endingpage | 541 | |
dc.author.faculty | Σχολή Θετικών και Εφαρμοσμένων Επιστημών / Faculty of Pure and Applied Sciences | |
dc.author.department | Τμήμα Βιολογικών Επιστημών / Department of Biological Sciences | |
dc.type.uhtype | Article | en |
dc.source.abbreviation | Ann. New York Acad. Sci. | en |
dc.contributor.orcid | Constantinou-Deltas, Constantinos D. [0000-0001-5549-9169] |
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