Skip to main content
. Author manuscript; available in PMC: 2009 Mar 9.
Published in final edited form as: Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):95–103. doi: 10.1002/ajmg.c.30089

Figure 2.

Figure 2

Molecular defects in the IVD gene on chromosome 15q14–15 [Mohsen et al., 1998; Ensenauer et al., 2004]. The nucleotide change 932C>T (A282V) in exon 9 has been identified in a significant proportion of individuals diagnosed by newborn screening [Ensenauer et al., 2004].