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A family with hereditary hyperferritinaemia cataract syndrome: evidence of incomplete penetrance and clinical heterogeneity
Author(s) -
GonzalezHuerta Luz,
RamirezSanchez Veronica,
RiveraVega Maria,
MessinaBaas Olga,
CuevasCovarrubias Sergio
Publication year - 2008
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.2008.07345.x
Subject(s) - ferritin , untranslated region , penetrance , gene , genetics , medicine , biology , mutation , microbiology and biotechnology , messenger rna , pathology , phenotype