1. Ataxia with Isolated Vitamin E Deficiency: Heterogeneity of Mutations and Phenotypic Variability in a Large Number of Families 
Laurent Cavalier, Karim Ouahchi, Herbert J. Kayden, Stephano Di Donato, Laurence Reutenauer, Jean-Louis Mandel, Michel Koenig 
The American Journal of Human Genetics 
Volume 62, Issue 2, Pages (February 1998)
DOI: /301699
Copyright © 1998 The American Society of Human Genetics Terms and Conditions

2. Figure 1
Distribution of α-TTP mutations. Unblackened boxes indicate coding sequences, and blackened boxes indicate 5′ and 3′ (partial) UTRs. Hatched areas indicate highly conserved domains in CRALBP and SEC14 (Arita et al. 1995). The nucleotide positions of the exon boundaries are indicated above the bar, and the positions of mutations are indicated below the bar. Novel mutations described in this study are underlined. The deletions and insertions are represented by upward-pointing and downward-pointing triangles, respectively; splice mutations are represented by a left-pointing (acceptor site) or a right-pointing (potential donor site) arrow; and nonsense and missense mutations are represented by upward-pointing arrows.
The American Journal of Human Genetics  , DOI: ( /301699)
Copyright © 1998 The American Society of Human Genetics Terms and Conditions