S89853[Secondary Source ID] - Search Results

1

Molecular basis of group A xeroderma pigmentosum: a missense mutation and two deletions located in a zinc finger consensus sequence of the XPAC gene.

Satokata I, Tanaka K, Okada Y. Satokata I, et al. Hum Genet. 1992 Mar;88(6):603-7. doi: 10.1007/BF02265282. Hum Genet. 1992. PMID: 1339397

2

Pyruvate dehydrogenase (PDH) deficiency caused by a 21-base pair insertion mutation in the E1 alpha subunit.

De Meirleir L, Lissens W, Vamos E, Liebaers I. De Meirleir L, et al. Hum Genet. 1992 Mar;88(6):649-52. doi: 10.1007/BF02265291. Hum Genet. 1992. PMID: 1551669

3

The molecular defect in a family with mild atypical osteogenesis imperfecta and extreme joint hypermobility: exon skipping caused by an 11-bp deletion from an intron in one COL1A2 allele.

Nicholls AC, Oliver J, Renouf DV, Heath DA, Pope FM. Nicholls AC, et al. Hum Genet. 1992 Mar;88(6):627-33. doi: 10.1007/BF02265286. Hum Genet. 1992. PMID: 1551666

4

The point mutation of hypoxanthine-guanine phosphoribosyltransferase (HPRTEdinburgh) and detection by allele-specific polymerase chain reaction.

Lightfoot T, Joshi R, Nuki G, Snyder FF. Lightfoot T, et al. Hum Genet. 1992 Mar;88(6):695-6. doi: 10.1007/BF02265300. Hum Genet. 1992. PMID: 1551676

5

Human triosephosphate isomerase: substitution of Arg for Gly at position 122 in a thermolabile electromorph variant, TPI-Manchester.

Perry BA, Mohrenweiser HW. Perry BA, et al. Hum Genet. 1992 Mar;88(6):634-8. doi: 10.1007/BF02265287. Hum Genet. 1992. PMID: 1339398

6

Deletions in exon 5 of the human rhodopsin gene causing a shift in the reading frame and autosomal dominant retinitis pigmentosa.

Horn M, Humphries P, Kunisch M, Marchese C, Apfelstedt-Sylla E, Fugi L, Zrenner E, Kenna P, Gal A, Farrar J. Horn M, et al. Hum Genet. 1992 Nov;90(3):255-7. doi: 10.1007/BF00220073. Hum Genet. 1992. PMID: 1487240

7

Hereditary cystatin C amyloid angiopathy: identification of the disease-causing mutation and specific diagnosis by polymerase chain reaction based analysis.

Abrahamson M, Jonsdottir S, Olafsson I, Jensson O, Grubb A. Abrahamson M, et al. Hum Genet. 1992 Jun;89(4):377-80. doi: 10.1007/BF00194306. Hum Genet. 1992. PMID: 1352269

8

Molecular and genetic characterization and physical mapping of 11 new markers detecting multiallele restriction fragment length polymorphisms on the short arm of human chromosome 3.

Latif F, Modi WS, Duh FM, Schmidt L, Li H, Geil L, Orcutt ML, Heppell-Parton A, Rabbitts PH, Linehan WM, et al. Latif F, et al. Hum Genet. 1992 Sep-Oct;90(1-2):17-22. doi: 10.1007/BF00210739. Hum Genet. 1992. PMID: 1358787

9

A non-alphoid repetitive DNA sequence from human chromosome 21.

Müllenbach R, Lutz S, Holzmann K, Dooley S, Blin N. Müllenbach R, et al. Hum Genet. 1992 Jul;89(5):519-23. doi: 10.1007/BF00219177. Hum Genet. 1992. PMID: 1634230

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