Clinical features and molecular analysis of seven British kindreds with hereditary hyperferritinaemia cataract syndrome.

Lachlan, Katherine L; Temple, I Karen; Mumford, Andrew D

Lachlan, Katherine L; Temple, I Karen; Mumford, Andrew D.

Affiliation

Lachlan KL; Wessex Clinical Genetics Service, Southampton University Hospitals NHS Trust, Southampton SO16 5YA, UK.

Eur J Hum Genet ; 12(10): 790-6, 2004 Oct.

Article in En | MEDLINE | ID: mdl-15280904

Subject(s)

Anemia/diagnosis; Cataract/diagnosis; Ferritins/blood; Ferritins/genetics; Adult; Anemia/genetics; Apoferritins; Cataract/genetics; Diagnosis, Differential; Female; Ferritins/metabolism; Hemochromatosis/diagnosis; Hemochromatosis/metabolism; Humans; Male; Middle Aged; Models, Molecular; Mutation/genetics; Nucleic Acid Conformation; Pedigree; RNA, Messenger/chemistry; RNA, Messenger/genetics; RNA, Messenger/metabolism; Syndrome

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Collection: 01-internacional Database: MEDLINE Main subject: Cataract / Ferritins / Anemia Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Female / Humans / Male / Middle aged Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2004 Type: Article Affiliation country: United kingdom

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