E. Rötzer scite author profile

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E. Rötzer

4Publications

42Citation Statements Received

30Citation Statements Given

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Affiliations

Praxis für Humangenetik, GTx (United States)

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

Gross¹,

Rötzer²,

Kölle³

et al. 2002

Neuromuscular Disorders

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Leber’s Hereditary Optic Neuroretinopathy and the X-Chromosomal Susceptibility Factor: No Linkage to DXS7

Carvalho¹,

Müller²,

Rötzer³

et al. 1992

Hum Hered

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Leber’s hereditary optic neuroretinopathy (LHON) was the first human disease for which mitochondrial inheritance was demonstrated. Analysis of genealogies, however, suggests the existence of an interacting X-linked factor, and linkage to DXS7 was recently described. We tested this location in four LHON families, with DXS7 and two flanking markers, OTC and DXS426. We found recombinations with DXS7 in two families and with DXS426 in one. The two point lod scores to DXS7 were negative with all the allele frequencies for the X-linked factor tested (q = 0.5; 0.35; 0.05).

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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

et al. 1995

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The Genetic Basis of Myoadenylate Deaminase Deficiency is Heterogeneous

Rötzer¹,

Mortier²,

Reichmann³

et al. 1998

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E. Rötzer

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

Leber’s Hereditary Optic Neuroretinopathy and the X-Chromosomal Susceptibility Factor: No Linkage to DXS7

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

The Genetic Basis of Myoadenylate Deaminase Deficiency is Heterogeneous

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E. Rötzer

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

Leber&rsquo;s Hereditary Optic Neuroretinopathy and the X-Chromosomal Susceptibility Factor: No Linkage to DXS7

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

The Genetic Basis of Myoadenylate Deaminase Deficiency is Heterogeneous

Contact Info

Product

Resources

About

Leber’s Hereditary Optic Neuroretinopathy and the X-Chromosomal Susceptibility Factor: No Linkage to DXS7