Compound heterozygosity for a disease-causing G1489E [correction of G1489D] and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability?

Download in:

• JSON
• RDF
• N3/Turtle
• N-Triples

View as

• Triples