Literature DB >> 2625210

Linkage analysis in granular corneal dystrophy (Groenouw I), Schnyder's crystalline corneal dystrophy, and Reis-Bücklers' corneal dystrophy.

J Kömpf1, H Ritter, W Lisch, E G Weidle, M P Baur.   

Abstract

Tight linkage was excluded for 8 markers in 37 blood relatives from 3 families, 29 of whom had granular corneal dystrophy (Groenouw I). Inconclusive results were obtained for linkage with four marker loci. The highest positive LOD score was 0.57 for linkage between glutamic pyruvic transaminase and granular corneal dystrophy. Tight linkage was excluded for glyoxalase-1 in eight individuals from one family with Schnyder's crystalline corneal dystrophy. Results were inconclusive for another six markers. Positive LOD scores were obtained for linkage with adenylate-kinase 1 and the ABO blood group, with values of 1.16 and 0.67, respectively. Among six blood relatives with Reis-Bücklers' corneal dystrophy, the highest positive LOD score was 1.17 for linkage with mitochondrial malic enzyme. For another six markers informative for linkage analysis, the results were inconsistent.

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Year:  1989        PMID: 2625210     DOI: 10.1007/bf02169448

Source DB:  PubMed          Journal:  Graefes Arch Clin Exp Ophthalmol        ISSN: 0721-832X            Impact factor:   3.117


  7 in total

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Journal:  Albrecht Von Graefes Arch Klin Exp Ophthalmol       Date:  1975

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Journal:  Surv Ophthalmol       Date:  1978 Sep-Oct       Impact factor: 6.048

3.  Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.

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Journal:  Am J Hum Genet       Date:  1974-09       Impact factor: 11.025

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Authors:  J D Kivlin; E W Lovrien; I H Maumenee; D T Bishop; W Bias
Journal:  Am J Med Genet       Date:  1984-10

5.  Schnyder's dystrophy. Progression and metabolism.

Authors:  W Lisch; E G Weidle; C Lisch; T Rice; E Beck; G Utermann
Journal:  Ophthalmic Paediatr Genet       Date:  1986-03

6.  [Various forms of opacities of granular corneal dystrophy].

Authors:  E G Weidle; W Lisch
Journal:  Klin Monbl Augenheilkd       Date:  1984-09       Impact factor: 0.700

7.  [Clinical and ultrastructural classification of Reis-Bückler corneal dystrophy].

Authors:  E G Weidle
Journal:  Klin Monbl Augenheilkd       Date:  1989-04       Impact factor: 0.700

  7 in total
  2 in total

1.  [Schnyder's crystalline corneal dystrophy. Further narrowing of the linkage interval at chromosome 1p34.1-p36?].

Authors:  P Riebeling; S Polz; F Tost; J S Weiss; H Kuivaniemi; M Hoeltzenbein
Journal:  Ophthalmologe       Date:  2003-11       Impact factor: 1.059

2.  Functional study of SCCD pathogenic gene UBIAD1 (Review).

Authors:  Jumin Xie; Lingxing Li
Journal:  Mol Med Rep       Date:  2021-08-09       Impact factor: 2.952

  2 in total

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