Literature DB >> 6497723

Association of Joubert's syndrome with Leber's congenital amaurosis.

M D King, J B Stephenson.   

Abstract

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Year:  1984        PMID： 6497723     DOI： 10.1001/archneur.1984.04050230013004

Source DB:  PubMed          Journal:  Arch Neurol        ISSN： 0003-9942


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  2 in total

1.  Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3.

Authors:  Lesley C Keeler; Sarah E Marsh; Esther P Leeflang; Christopher G Woods; László Sztriha; Lihadh Al-Gazali; Aithala Gururaj; Joseph G Gleeson
Journal:  Am J Hum Genet       Date:  2003-08-13       Impact factor: 11.025

2.  Whole-exome sequencing identifies two novel ALMS1 mutations in Indian patients with Leber congenital amaurosis.

Authors:  Natarajan N Srikrupa; Sarangapani Sripriya; Suriyanarayanan Pavithra; Parveen Sen; Ravi Gupta; Sinnakaruppan Mathavan
Journal:  Hum Genome Var       Date:  2021-03-29
  2 in total

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