Complete paternal uniparental isodisomy of chromosome 1 resulting in Herlitz junctional epidermolysis bullosa

Clinical and Experimental Dermatology

Volumn 30, Issue 1, 2005, Pages 71-74

  Fassihi, H ^a   Wessagowit, V ^a   Ashton, G H S ^a   Moss, C ^b   Ward, R ^b   Denyer, J ^c   Mellerio, J E ^a   McGrath, J A ^a,d  

^a KING'S COLLEGE LONDON   (United Kingdom)

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

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^d ST THOMAS HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; KALININ;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BASEMENT MEMBRANE; CASE REPORT; CHROMOSOME 1; CHROMOSOME 1Q; DNA SEQUENCE; EPIDERMOLYSIS BULLOSA; FEMALE; FRAMESHIFT MUTATION; GENE; GENE LOCUS; GENE MUTATION; GENETIC COUNSELING; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INFANT; LAMA3 GENE; LAMB3 GENE; LAMC2 GENE; MICROSATELLITE MARKER; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; UNIPARENTAL DISOMY;

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 1; EPIDERMOLYSIS BULLOSA, JUNCTIONAL; FEMALE; GENETIC COUNSELING; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT; UNIPARENTAL DISOMY;

EID: 13244287800     PISSN: 03076938     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2230.2004.01660.x     Document Type: Article

References (13)

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