Title : A single base mutation in the type II procollagen gene (COL2A1) that converts glycine alpha 1-247 to serine in a family with late-onset spondyloepiphyseal dysplasia.

Pub. Date : 1994

PMID : 8019561






1 Functional Relationships(s)
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1 Direct sequencing of the PCR products for exon 19 revealed a single base mutation that converted the codon of -GGT- for glycine at alpha 1-247 to -AGT-, a codon for serine. Glycine angiotensinogen Homo sapiens