Segmental isodisomy and skewed X-inactivation resulting in haemophilia B in a female [1]

British Journal of Haematology

Volumn 131, Issue 3, 2005, Pages 410-411

  Sellner, L N ^a   Price, P J ^a  

^a PRINCESS MARGARET HOSPITAL FOR CHILDREN   (Australia)

Author keywords

Haemophilia molecular biology; X inactivation

Indexed keywords

ANAMNESIS; CASE REPORT; FEMALE; HEMOPHILIA B; HUMAN; LABORATORY TEST; LETTER; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; UNIPARENTAL DISOMY; X CHROMOSOME; X CHROMOSOME INACTIVATION; GENETICS; INFANT;

BLOOD CLOTTING FACTOR 9;

CHROMOSOMES, HUMAN, X; FACTOR IX; FEMALE; HEMOPHILIA B; HUMANS; INFANT; UNIPARENTAL DISOMY; X CHROMOSOME INACTIVATION;

EID: 33644789927     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2005.05780.x     Document Type: Letter

References (3)

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2. Quan F. Janas J. Tith-Fejel S. Johnson D.B. Wolford J.K. Popovich B.W. (1997) Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy. American Journal of Human Genetics, 60, 160 165.
3. Shetty S. Ghosh K. Mohanty D. (2001) Hemophilia B in a female. Acta Haematologica, 106, 115 117.