X-linked retinoschisis in a female with a heterozygous RS1 missense mutation

American Journal of Medical Genetics, Part A

Volumn 143, Issue 6, 2007, Pages 608-609

  Saldana, Manuel ^a   Thompson, Jenny ^b   Monk, Elizabeth ^c   Trump, Dorothy ^d   Long, Vernon ^a   Sheridan, Eamonn ^b  

^a LEEDS GENERAL INFIRMARY   (United Kingdom)

^b ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^c ADDENBROOKE S HOSPITAL   (United Kingdom)

^d UNIVERSITY OF MANCHESTER   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CLINICAL FEATURE; FEMALE; GENE; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HUMAN; MISSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINOSCHISIS; RS1 GENE; VISUAL DISORDER; X CHROMOSOME INACTIVATION; X CHROMOSOME LINKAGE;

CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; FEMALE; HETEROZYGOTE; HUMANS; KARYOTYPING; MUTATION, MISSENSE; RETINOSCHISIS;

EID: 33847347223     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31568     Document Type: Article

References (11)

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