Ph.D. in Biomedical Science: Area of ConcentrationGenetics & Developmental Biology
Research Areas
Genetics and Human Disease
 Figure: Family with compound heterozygosity
for N540K and G380R mutations. Note the proband (II-1) who inherited the
N540K mutations from her mother who is affected with hypochondroplasia.
The proband inherited the G380R mutation from her father who has
achondroplasia. Panels TM and TK1 show the sequences surrounding the
G380R and the N540K mutations respectively. From: Prinos, P, Costa, T,
Sommer, A, Kilpatrick, M.W. and Tsipouras, P. (1997).A common FGFR3 gene
mutation in hypochondroplasia. Hum. Mol. Genetics., 4: 2097-2101.
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