Substitution of glutamic acid for glycine 589 in the triple-helical domain of type III procollagen (COL3A1) in a family with variable phenotype of the Ehlers-Danlos syndrome type IV.
Madhatheri
S L
SL
Department of Biochemistry and Molecular Biology, Jefferson Institute of Molecular Medicine, Jefferson Medical College, Philadelphia, PA 19107.
Tromp
G
G
Gustavson
K H
KH
Kuivaniemi
H
H
D000293:Adolescent; D000328:Adult; D004252:DNA Mutational Analysis; D004535:Ehlers-Danlos Syndrome / Q000235:genetics*; D005260:Female; D005971:Glutamates / Q000378:metabolism*; D018698:Glutamic Acid; D005998:Glycine / Q000378:metabolism*; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D011347:Procollagen / Q000737:chemistry / Q000235:genetics*
D005971:Glutamates; D011347:Procollagen; D018698:Glutamic Acid; D005998:Glycine