A COL3A1 glycine 1006 to glutamic acid substitution in a patient with Ehlers-Danlos syndrome type IV detected by denaturing gradient gel electrophoresis.
Johnson
P H
PH
MRC Human Biochemical Genetics Unit, Galton Laboratory, University College London, UK.
Richards
A J
AJ
Pope
F M
FM
Hopkinson
D A
DA
D000328:Adult; D001483:Base Sequence; D003001:Cloning, Molecular; D003094:Collagen / Q000737:chemistry / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004535:Ehlers-Danlos Syndrome / Q000235:genetics*; D004586:Electrophoresis; D005260:Female; D005971:Glutamates / Q000235:genetics*; D018698:Glutamic Acid; D005998:Glycine / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D009691:Nucleic Acid Denaturation; D009692:Nucleic Acid Heteroduplexes; D016133:Polymerase Chain Reaction
D005971:Glutamates; D009692:Nucleic Acid Heteroduplexes; D018698:Glutamic Acid; D003094:Collagen; D004247:DNA; D005998:Glycine