Paternal uniparental disomy of chromosome 13 causing homozygous 35delG mutation of the GJB2 gene and hearing loss [2]

American Journal of Medical Genetics, Part A

Volumn 143, Issue 4, 2007, Pages 385-386

  Yan, Denise ^a   Xiao, Mei Ouyang ^a   Angeli, Simon I ^a   Li, Lin Du ^a   Xue, Zong Liu ^a  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CAUSAL ATTRIBUTION; CHILD; CHROMOSOME 13Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION 13; CHROMOSOME MAP; FEMALE; GENE; GENE FREQUENCY; GENE LOCATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; GJB2 GENE; HEARING LOSS; HOMOZYGOSITY; HUMAN; LETTER; MALE; MICROSATELLITE MARKER; NONDISJUNCTION; PARENTAGE ANALYSIS; PERCEPTION DEAFNESS; POLYMORPHIC LOCUS; PRIORITY JOURNAL; UNIPARENTAL DISOMY;

CHROMOSOMES, HUMAN, PAIR 13; CONNEXINS; FEMALE; GENE FREQUENCY; HEARING LOSS; HOMOZYGOTE; HUMANS; MALE; SEQUENCE DELETION; UNIPARENTAL DISOMY;

EID: 33846807616     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31553     Document Type: Letter

References (7)

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