Classification and genetic features of neonatal haemochromatosis: A study of 27 affected pedigrees and molecular analysis of genes implicated in iron metabolism

Journal of Medical Genetics

Volumn 38, Issue 9, 2001, Pages 599-610

  Kelly, A L ^a   Lunt, P W ^b   Rodrigues, F ^d   Berry, P J ^c   Flynn, D M ^e   McKiernan, P J ^e   Kelly, D A ^e   Mieli Vergani, G ^d   Cox, T M ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b BRISTOL ROYAL HOSPITAL FOR CHILDREN   (United Kingdom)

^c UNIVERSITY OF BRISTOL   (United Kingdom)

^d KING S COLLEGE HOSPITAL   (United Kingdom)

^e BIRMINGHAM CHILDREN S HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

Haemochromatosis; Iron storage; Liver; Neonatal

Indexed keywords

ANTINUCLEAR ANTIBODY; BETA 2 MICROGLOBULIN; HEME OXYGENASE; RIBONUCLEOPROTEIN ANTIBODY;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE CLASSIFICATION; DISEASE TRANSMISSION; FEMALE; GENE MUTATION; GENOME; HEMOCHROMATOSIS; HEPATITIS; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INFANT; INHERITANCE; IRON METABOLISM; IRON STORAGE; LIVER CIRRHOSIS; MALE; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; VIRUS INFECTION;

EID: 0034845503     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.38.9.599     Document Type: Article

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