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.
Ki
C-S
CS
Jin
D-K
DK
Chang
S H
SH
Kim
J-E
JE
Kim
J-W
JW
Park
B K
BK
Choi
J-H
JH
Park
I S
IS
Yoo
H-W
HW
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
D000071837:Fibrillins; D008840:Microfilament Proteins; D018125:Receptors, Transforming Growth Factor beta; D017346:Protein Serine-Threonine Kinases; D000077294:Receptor, Transforming Growth Factor-beta Type II