Identification of a novel TGFBR1 mutation in a Loeys-Dietz syndrome type II patient with vascular Ehlers-Danlos syndrome phenotype.
Drera
B
B
Tadini
G
G
Barlati
S
S
Colombi
M
M
D000015:Abnormalities, Multiple / Q000235:genetics*; D000595:Amino Acid Sequence; D000783:Aneurysm / Q000235:genetics; D001483:Base Sequence; D024061:Collagen Type III / Q000235:genetics; D004252:DNA Mutational Analysis; D004535:Ehlers-Danlos Syndrome / Q000097:blood* / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D017346:Protein Serine-Threonine Kinases / Q000737:chemistry / Q000235:genetics*; D000077293:Receptor, Transforming Growth Factor-beta Type I; D018125:Receptors, Transforming Growth Factor beta / Q000737:chemistry / Q000235:genetics*; D013577:Syndrome
C439971:COL3A1 protein, human; D024061:Collagen Type III; D018125:Receptors, Transforming Growth Factor beta; D017346:Protein Serine-Threonine Kinases; D000077293:Receptor, Transforming Growth Factor-beta Type I; C000625841:TGFBR1 protein, human