Phenotypical expression of mutation R227X exon 5 of the GLA gene (nucleotide change p.Arg227X c.608C > T) identified in a large UK kindred spanning eight generations in a well-documented family pedigree

ACTA PAEDIATRICA(2006)

Cited 23|Views8
No score
Key words
gla gene,mutation r227x exon,family pedigree,well-documented
AI Read Science
Must-Reading Tree
Example
Generate MRT to find the research sequence of this paper
Chat Paper
Summary is being generated by the instructions you defined