Literature DB >> 7759088

Intragenic TaqI restriction fragment length polymorphism (RFLP) in CICN4, between the loci for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects syndrome (MLS).

R E Schnur1, P A Wick.   

Abstract

A TaqI RFLP was detected within the ClCN4 gene, which lies between the loci for OA1 and MLS. There were no observed recombinations between this RFLP and the OA1 mutation in three informative families. Thus, the marker will be useful for genetic counseling in OA1.

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Year:  1995        PMID： 7759088     DOI： 10.1007/BF00223880

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  4 in total

1.  Linkage analysis in X-linked ocular albinism.

Authors:  R E Schnur; R L Nussbaum; L Anson-Cartwright; C McDowell; R G Worton; M A Musarella
Journal:  Genomics       Date:  1991-04       Impact factor: 5.736

2.  The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions.

Authors:  M C Wapenaar; M T Bassi; L Schaefer; A Grillo; G B Ferrero; A C Chinault; A Ballabio; H Y Zoghbi
Journal:  Hum Mol Genet       Date:  1993-07       Impact factor: 6.150

3.  Phenotypic variability in X-linked ocular albinism: relationship to linkage genotypes.

Authors:  R E Schnur; P A Wick; C Bailey; T Rebbeck; R G Weleber; J Wagstaff; A W Grix; R A Pagon; A Hockey; M J Edwards
Journal:  Am J Hum Genet       Date:  1994-09       Impact factor: 11.025

4.  A gene from the Xp22.3 region shares homology with voltage-gated chloride channels.

Authors:  M A van Slegtenhorst; M T Bassi; G Borsani; M C Wapenaar; G B Ferrero; L de Conciliis; E I Rugarli; A Grillo; B Franco; H Y Zoghbi; A Ballabio
Journal:  Hum Mol Genet       Date:  1994-04       Impact factor: 6.150
  4 in total

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