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Protocol publication

[…] b'ntire coding region and adjacent intron boundaries of the ENAM and LAMB3 genes were amplified by polymerase chain reaction (PCR) with TaKaRa Ex-Taq (Takara Bio, Kyoto, Japan). Primers were designed with Primer 3 on the Web ( (see and Tables). The products were purified and sequenced using an ABI 377 Automatic Sequencer (Applied Biosystems, Foster City, CA, USA). Sequencing was performed in both directions to confirm the mutation when an alteration was detected. We analyzed the insertion/deletion mutation with the help of Mutation Surveyor(SoftGenetics, State College, PA, USA)., The structures of the wild-type and mutant LAMB3 protein were modeled on the I-TASSER sever[] and analyzed by CCP4MG [] (). Molecular graphics were created using PyMOL (The PyMOL Molecular Graphics System, DeLano Scientific, Palo Alto, CA, USA;, The clinical phenotype of this family was typical hypoplastic pitting and horizontal grooves. The proband was a 7.5-year-old girl presenting with grooved and pitted hypoplastic enamel in her newly-erupted permanent incisors without her primary teeth being affected. The spacing of the mandibular anterior teeth was clearly secondary to the thin enamel on the crowns. Anterior crossbite was noted though the maxillary incisors have not completely erupted (). Radiographic examination showed generally thin enamel especially in anterior teeth and unerupted canines. The radiographic density of t' […]

Pipeline specifications

Software tools I-TASSER, CCP4mg, PyMOL