Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome.
M
M
Plasilova
C
C
Chattopadhyay
P
P
Pal
N A
NA
Schaub
S A
SA
Buechner
Hj
H
Mueller
P
P
Miny
A
A
Ghosh
K
K
Heinimann
D000293:Adolescent; D019588:Aging, Premature / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006580:Genetic Carrier Screening; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D007194:India; D034904:Lamin Type A / Q000235:genetics*; D019656:Loss of Heterozygosity / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D011371:Progeria / Q000235:genetics* / Q000473:pathology
D034904:Lamin Type A; C440308:lamin C