A-2-->G transition at the 3' acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred.
Williams CJ, Ganguly A, Considine E, McCarron S, Prockop DJ, Walsh-Vockley C, Michels VV.
Williams CJ, et al. Among authors: ganguly a.
Am J Med Genet. 1996 Jun 14;63(3):461-7. doi: 10.1002/(SICI)1096-8628(19960614)63:3<461::AID-AJMG9>3.0.CO;2-U.
Am J Med Genet. 1996.
PMID: 8737653
A prominent heteroduplex species was noted in the polymerase chain reaction (PCR) product from a region of the gene including exons 17 to 20. Direct sequencing of PCR-amplified genomic DNA resulted in the identification of a base substitution at the A- …
A prominent heteroduplex species was noted in the polymerase chain reaction (PCR) product from a region of the gene including …