A susceptibility locus on 1p32-1p34 for congenital macrostomia in a Chinese family and identification of a novel PTCH2 mutation.
Fan
Zhipeng
Z
Molecular Laboratory for Gene Therapy, Capital Medical University School of Stomatology, Beijing, PR China.
Du
Juan
J
Liu
Huimin
H
Zhang
Honglai
H
Dlugosz
Andrzej A
AA
Wang
Cun-Yu
CY
Fan
Ming
M
Shen
Yan
Y
Wang
Songlin
S
D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002460:Cell Line; D002681:China; D002878:Chromosomes, Human, Pair 1; D004198:Disease Susceptibility; D005091:Exons; D005190:Family; D017930:Genes, Reporter; D008040:Genetic Linkage; D005819:Genetic Markers; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D008126:Lod Score; D008156:Luciferases / Q000378:metabolism; D008265:Macrostomia / Q000235:genetics*; D009154:Mutation; D000072079:Patched Receptors; D000072082:Patched-2 Receptor; D010375:Pedigree; D011956:Receptors, Cell Surface / Q000235:genetics*; D013997:Time Factors; D014162:Transfection
D005819:Genetic Markers; C000606238:PTCH2 protein, human; D000072079:Patched Receptors; D000072082:Patched-2 Receptor; D011956:Receptors, Cell Surface; D008156:Luciferases