title: Identification of a novel TGFBR2 gene mutation in a Korean patient with Loeys-Dietz aortic aneurysm syndrome; no mutation in TGFBR2 gene in 30 patients with classic Marfan's syndrome.
authors.forename: C-S
authors.initials: CS
authors.lastname: Ki
authors.forename: D-K
authors.initials: DK
authors.lastname: Jin
authors.forename: S H
authors.initials: SH
authors.lastname: Chang
authors.forename: J-E
authors.initials: JE
authors.lastname: Kim
authors.forename: J-W
authors.initials: JW
authors.lastname: Kim
authors.forename: B K
authors.initials: BK
authors.lastname: Park
authors.forename: J-H
authors.initials: JH
authors.lastname: Choi
authors.forename: I S
authors.initials: IS
authors.lastname: Park
authors.forename: H-W
authors.initials: HW
authors.lastname: Yoo
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000595:Amino Acid Sequence; D001014:Aortic Aneurysm / Q000235:genetics* / Q000473:pathology; D001483:Base Sequence; D017023:Coronary Angiography; D004252:DNA Mutational Analysis; D000071837:Fibrillins; D005787:Gene Frequency; D005820:Genetic Testing; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007723:Korea; D008382:Marfan Syndrome / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D017346:Protein Serine-Threonine Kinases; D000077294:Receptor, Transforming Growth Factor-beta Type II; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics*; D013577:Syndrome
chemical_list: D000071837:Fibrillins; D008840:Microfilament Proteins; D018125:Receptors, Transforming Growth Factor beta; D017346:Protein Serine-Threonine Kinases; D000077294:Receptor, Transforming Growth Factor-beta Type II