E. Rötzer

Identification of a new missense mutation in exon 2 of the human hypoxanthine phosphoribosyltransferase gene (HPRTIsar): A further example of clinical heterogeneity in HPRT deficiencies

R. Burgemeister, M. Gehrke, W. Gutensohn, 1995, Human mutation.

A G468-T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian population

H. Reichmann, H. Goebel, Hanns Lochmüller, 2002, Neuromuscular Disorders.

Leber's hereditary optic neuroretinopathy and the X-chromosomal susceptibility factor: no linkage to DXs7.

T. Meitinger, B. Lorenz, M. Carvalho, 1992, Human heredity.