Literature DB >> 3017613

Detection and exclusion of carriers of ornithine transcarbamylase deficiency by RFLP analysis.

M Schwartz, E Christensen, N C Christensen, F Skovby, K E Davies, J M Old.   

Abstract

By examining a restriction fragment length polymorphism (RFLP) detected by a gene specific DNA probe of ornithine transcarbamylase (OTC), we have been able to follow the segregation of the defective gene in a family with OTC deficiency. We have identified three sisters of the proband as carriers, and excluded a fourth as a carrier.

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Year:  1986        PMID： 3017613     DOI： 10.1111/j.1399-0004.1986.tb00520.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  5 in total

1.  DNA analysis of ornithine transcarbamylase deficiency.

Authors:  U Wendel; E Wilichowski; J Schmidtke; C Bachmann
Journal:  Eur J Pediatr       Date:  1988-05       Impact factor: 3.183

2.  Improved molecular diagnostics for ornithine transcarbamylase deficiency.

Authors:  M Grompe; C T Caskey; R G Fenwick
Journal:  Am J Hum Genet       Date:  1991-02       Impact factor: 11.025

3.  Carrier detection in a partially dominant X-linked disease: ornithine transcarbamylase deficiency.

Authors:  A Pelet; A Rotig; C Bonaïti-Pellié; D Rabier; V Cormier; E Toumas; D Hentzen; J M Saudubray; A Munnich
Journal:  Hum Genet       Date:  1990-01       Impact factor: 4.132

Review 4.  Diagnosis of genetic disease using recombinant DNA. Supplement.

Authors:  D N Cooper; J Schmidtke
Journal:  Hum Genet       Date:  1987-09       Impact factor: 4.132

5.  Ornithine transcarbamylase (OTC) deficiency in a female patient with a de nova deletion of the paternal X chromosome.

Authors:  R Slomski; I Braulke; C Behrend; E Schröder; J P Colombo; J Reiss
Journal:  Hum Genet       Date:  1992-08       Impact factor: 4.132
  5 in total

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