Uniparental disomy in cartilage-hair hypoplasia

European Journal of Human Genetics

Volumn 5, Issue 1, 1997, Pages 35-42

  Sulisalo, Tuija ^a,f   Mäkitie, Outi ^b   Sistonen, Pertti ^c   Ridanpää, Maaret ^a   El Rifai, Wa'el ^a   Ruuskanen, Olli ^e   De La Chapelle, Albert ^a   Kaitila, Ilkka ^a,d  

^a UNIVERSITY OF HELSINKI   (Finland)

^b UNIVERSITY OF HELSINKI AND HELSINKI UNIVERSITY HOSPITAL   (Finland)

^c FINNISH RED CROSS BLOOD SERVICE   (Finland)

^d HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^e UNIVERSITY OF TURKU   (Finland)

^f NONE   (Finland)

Author keywords

Cartilage hair hypoplasia; Chromosome 9; Segregation analysis; Uniparental disomy

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE GROWTH; CARTILAGE HYPOPLASIA; CASE REPORT; CELLULAR IMMUNITY; CHROMOSOME 9P; ETHNIC GROUP; FEMALE; FINLAND; GENE LINKAGE DISEQUILIBRIUM; GENETIC COUNSELING; HAIR DISEASE; HAPLOTYPE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; PENETRANCE; PLEIOTROPY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; STATISTICS; UNIPARENTAL DISOMY; UNITED STATES;

EID: 0030988550     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1159/000484729     Document Type: Article

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