K L Friend
Affiliation: University of Adelaide
- Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHMK L Friend
Department of Cytogenetics and Molecular Genetics Women s and Children s Hospital, North Adelaide, South Australia, Australia
Hum Genet 105:261-5. 1999..Additionally, a second previously identified recurrent muta tion, C2272T, in exon 16 has been discovered in a patient with FHM...