Segregation of the N301T mutation in the family of the index patient with mevalonate kinase deficiency.
Goebel-Schreiner
B
B
Metabolic Disease Center, Baylor University Medical Center, Dallas, Texas, USA.
Schreiner
R
R
Hoffmann
G F
GF
Gibson
K M
KM
D000483:Alleles; D001483:Base Sequence; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000172:deficiency* / Q000378:metabolism
D017853:Phosphotransferases (Alcohol Group Acceptor); C021796:mevalonate kinase