Chromosomal fragility in patients with triple A syndrome

American Journal of Medical Genetics

Volumn 117 A, Issue 1, 2003, Pages 30-36

  Reshmi Skarja, Shalini ^a   Huebner, Angela ^b   Handschug, Katrin ^b   Finegold, David N ^a,c   Clark, Adrian J L ^d   Gollin, Susanne M ^a  

^a UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

^b DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^c UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^d ST BARTHOLOMEW S HOSPITAL   (United Kingdom)

Author keywords

Chromosome 9; Chromosome breakage; Classical satellite DNA; Deletions; Fragility; Triple A syndrome

Indexed keywords

SATELLITE DNA; AAAS PROTEIN, HUMAN; DNA; NUCLEOPORIN; PROTEIN;

ADOLESCENT; ADRENAL INSUFFICIENCY; ADULT; AGED; ALLGROVE SYNDROME; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 12Q; CHROMOSOME 9; CHROMOSOME ANALYSIS; CHROMOSOME ARM; CHROMOSOME BREAKAGE; CHROMOSOME FRAGILITY; CHROMOSOME LOSS; CHROMOSOME PAINTING; CONTROLLED STUDY; DISEASE ASSOCIATION; DNA SEQUENCE; ESOPHAGUS ACHALASIA; FEMALE; GENE DELETION; GENE MUTATION; HETEROCHROMATIN; HETEROZYGOTE; HUMAN; LACRIMAL GLAND DISEASE; MALE; MARKER CHROMOSOME; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; CHEMISTRY; CHILD; CHROMOSOME DELETION; CONGENITAL MALFORMATION; GENETICS; LACRIMAL APPARATUS; MIDDLE AGED; MULTIPLE MALFORMATION SYNDROME; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; SYNDROME;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADRENAL INSUFFICIENCY; ADULT; AGED; CHILD; CHROMOSOME DELETION; CHROMOSOME FRAGILITY; CHROMOSOMES, HUMAN, PAIR 9; DNA; DNA MUTATIONAL ANALYSIS; ESOPHAGEAL ACHALASIA; FEMALE; HUMANS; LACRIMAL APPARATUS; MALE; MIDDLE AGED; MUTATION; NUCLEAR PORE COMPLEX PROTEINS; PROTEINS; SYNDROME;

EID: 0038412586     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.10846     Document Type: Article

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