...COL1A2 gene showed the presence of a T to C transition at position +2 of intron 6 in one allele and the proband is heter...
...COL1A2, respectively). Usually, these mutations are unique to the affected individual or individuals within a family. In...
...COL1A2, FAS, CTSB, CTSL, CHRNG, HEXB and HTR1A) and two by polymerase chain reaction (PCR) amplification (HRH1 and ETH11...
...COL1A2 introns 19 and 20 are reported.
...COL1A2 gene that substituted a serine codon for a glycine codon at position 661 of the alpha 2(I) chain. The procollagen...
...COL1A2 gene, which converts glycine 700 to aspartic acid in the alpha 2I chain. This mutation caused the abolition of a ...
...COL1A2) promoter by increasing the affinity of an Sp1-containing protein complex for its cognate DNA-binding site. Cell ...
...COL1A2) that encode the chains of type I collagen. OI can be divided into four major groups, type I, II, III, and IV, th...
...COL1A2 gene, we determined that all patients expressed both alleles of the COL1A2 gene. The 12 patients who were heteroz...
...COL1A2) which encodes the alpha 2(I) chain of type I collagen. An affected fetus was predicted by detection of the mutat...
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