Literature DB >> 8486373

Refinement of the localization of the X-linked ocular albinism gene.

A A Bergen1, P Zijp, E J Schuurman, E M Bleeker-Wagemakers, P Apkarian, G J van Ommen.   

Abstract

Although physical and genetic mapping studies assigned the X-linked ocular albinism gene to Xp22.3, the exact gene order in this region is still unclear. We present additional genetic mapping data concerning X-linked ocular albinism that suggests the consensus order Xpter-STS-DXS237-KAL-(OA1, DXS143)-DXS85-DXS16-Xcen.

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Year:  1993        PMID： 8486373     DOI： 10.1006/geno.1993.1176

Source DB:  PubMed          Journal:  Genomics        ISSN： 0888-7543            Impact factor:   5.736


  5 in total

1.  Abnormal crossing of the optic fibres shown by evoked magnetic fields in patients with ocular albinism with a novel mutation in the OA1 gene.

Authors:  L Lauronen; R Jalkanen; J Huttunen; E Carlsson; S Tuupanen; S Lindh; H Forsius; E-M Sankila; T Alitalo
Journal:  Br J Ophthalmol       Date:  2005-07       Impact factor: 4.638

2.  Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism.

Authors:  A Meindl; D Hosenfeld; W Brückl; S Schuffenhauer; J Jenderny; A Bacskulin; H C Oppermann; O Swensson; P Bouloux; T Meitinger
Journal:  J Med Genet       Date:  1993-10       Impact factor: 6.318

Review 3.  Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous.

Authors:  P J Rosenfeld; V A McKusick; J S Amberger; T P Dryja
Journal:  J Med Genet       Date:  1994-12       Impact factor: 6.318

4.  Genetic mapping of the Kallmann syndrome and X linked ocular albinism gene loci.

Authors:  Y Zhang; R McMahon; S J Charles; J S Green; A T Moore; D E Barton; J R Yates
Journal:  J Med Genet       Date:  1993-11       Impact factor: 6.318

5.  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
  5 in total

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