Ehlers-Danlos syndrome type VIIB. Deletion of 18 amino acids comprising the N-telopeptide region of a pro-alpha 2(I) chain

A patient with Ehlers-Danlos syndrome Type VIIB was found to have an interstitial deletion of 18 amino acids in approximately half of the pro-alpha 2(I) chains of Type I procollagen. Analysis of pepsin-solubilized tissue and fibroblast collagen revealed an abnormal additional chain, alpha 2(I)'...

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Veröffentlicht in:	The Journal of biological chemistry 1987-12, Vol.262 (34), p.16376-16385
Hauptverfasser:	Wirtz, MK, Glanville, RW, Steinmann, B, Rao, VH, Hollister, DW
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Sequence Amino Acids - analysis Base Sequence Chromosome Deletion Collagen - analysis Collagen - genetics DNA - analysis Ehlers-Danlos Syndrome - genetics Ehlers-Danlos Syndrome - pathology Female Humans Infant Joint Instability - genetics Joint Instability - pathology Molecular Sequence Data Mutation Peptide Mapping Phenotype Procollagen - analysis Skin - analysis
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