SSCP detection of a nonsense mutation in exon 5 of the amelogenin gene (AMGX) causing X-linked amelogenesis imperfecta (AIH1).
Lench
N J
NJ
Department of Oral Biology, Eastman Dental Hospital, London, UK.
Brook
A H
AH
Winter
G B
GB
D000567:Amelogenesis Imperfecta / Q000235:genetics*; D053523:Amelogenin; D001483:Base Sequence; D004252:DNA Mutational Analysis; D004277:DNA, Single-Stranded / Q000235:genetics; D003746:Dental Enamel Proteins / Q000235:genetics*; D005091:Exons; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009690:Nucleic Acid Conformation; D010375:Pedigree; D011110:Polymorphism, Genetic; D017384:Sequence Deletion
C507199:AMELX protein, human; D053523:Amelogenin; D004277:DNA, Single-Stranded; D003746:Dental Enamel Proteins