(sabkÉnËtrÓktÉ) , ((American) sabËkontraktÉr) noun. a person who undertakes work for a contractor and is therefore not directly employed by the person who wants such work done. The building contractor has employed several subcontractors to build the block of flats.
Furthermore, three unrelated fragile X patients were found with a C-to-T point mutation at the 14th nucleotide in intron 10 with normal length CGGÂ·CCG repeats (Fig. 1F) (42). Clearly, these point mutations are sufficient for the development of the fragile X syndrome.
TEXT. A number sign (#) is used with this entry because postaxial polydactyly type A1 (PAPA1) and type B (PAPB) can be caused by heterozygous mutation in the GLI3 (165240) gene on chromosome 7p. See also preaxial polydactyly type IV (174700), an allelic disorder.Description.n a patient with postaxial polydactyly type B of the hands, Furniss et al. (2007) identified a heterozygous mutation in the GLI3 gene (165240.0015), which was predicted to result in premature termination and shown to be subject to nonsense-mediated mRNA decay.