U
Uta Francke
Researcher at Stanford University
Publications - 475
Citations - 49980
Uta Francke is an academic researcher from Stanford University. The author has contributed to research in topics: Gene & Gene mapping. The author has an hindex of 108, co-authored 475 publications receiving 48481 citations. Previous affiliations of Uta Francke include McGill University & University of North Carolina at Chapel Hill.
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Molecular Cloning, cDNA Sequence, and Chromosomal Assignment of the Human Radixin Gene and Two Dispersed Pseudogenes
TL;DR: The human radixin cDNA is cloned and sequenced and the predicted amino acid sequence for the human protein is found to be nearly identical to those predicted for Radixin in the two other species.
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Distribution of genes for gap junction membrane channel proteins on human and mouse chromosomes.
TL;DR: By probing somatic cell hybrid DNA on Southern filters with rat or human cDNAs or human genomic fragments, four functioning gap junction genes are mapped to different sites on human chromosomes, and additional members of this family of related genes can be isolated and characterized.
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Detection of heterozygous carriers of the Lesch-Nyhan syndrome by electrophoresis of hair root lysates
TL;DR: Mosaicism has been demonstrated for the X-linked enzyme hypoxanthine-guanine phosphoribosyl transferase (HGPRT) in heterozygous carriers of the Lesch-Nyhan syndrome by examining single hair follicles for the activity of HGPRT and APRT using polyacrylamide gel electrophoresis.
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Exclusion of growth hormone (GH)-releasing hormone gene mutations in familial isolated GH deficiency by linkage and single strand conformation analysis.
TL;DR: It is concluded that mutations responsible for IGHD are not within or near the structural gene for GHRH on chromosome 20 in the 23 families studied.
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Utilization of purines by an HPRT variant in an intelligent, nonmutilative patient with features of the Lesch-Nyhan syndrome.
TL;DR: The patient, H.B., was among the first reported with hyperuricemia and central nervous system symptoms and has been found to have a variant of hypoxanthine guanine phosphoribosyl transferase (HPRT; E.C.4.2.8) distinct from the enzyme present in patients with the Lesch-Nyhan syndrome.