P1148A in fibrillin-1 is not a mutation leading to Shprintzen-Goldberg syndrome.
Watanabe
Y
Y
Yano
S
S
Koga
Y
Y
Yukizane
S
S
Nishiyori
A
A
Yoshino
M
M
Kato
H
H
Ogata
T
T
Adachi
M
M
D000015:Abnormalities, Multiple / Q000235:genetics*; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D005787:Gene Frequency; D006330:Heart Defects, Congenital / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007564:Japan; D008297:Male; D008840:Microfilament Proteins / Q000235:genetics*; D009154:Mutation; D015183:Restriction Mapping; D013577:Syndrome; D054392:Adipokines
D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines