CHARACTERIZATION OF A SINGLE MUTATION THAT RESULTS IN AN ASPARTIC-ACID TO HISTIDINE SUBSTITUTION AND PARTIAL EXON SKIPPING IN A PATIENT WITH CONGENITAL CONTRACTURAL ARACHNODACTYLY
Cl. Maslen et al., CHARACTERIZATION OF A SINGLE MUTATION THAT RESULTS IN AN ASPARTIC-ACID TO HISTIDINE SUBSTITUTION AND PARTIAL EXON SKIPPING IN A PATIENT WITH CONGENITAL CONTRACTURAL ARACHNODACTYLY, American journal of human genetics, 61(4), 1997, pp. 1987-1987