Estimation of carrier frequencies of six autosomal-recessive Mendelian disorders in the Korean population

Journal of Human Genetics

Volumn 57, Issue 2, 2012, Pages 139-144

  Song, Min Jung ^a   Lee, Seung Tae ^a   Lee, Mi Kyung ^b   Ji, Yongick ^a   Kim, Jong Won ^a   Ki, Chang Seok ^a  

^a Sungkyunkwan University   (South Korea)

^b Chung Ang University   (South Korea)

Author keywords

autosomal recessive disorder; carrier frequency; genetic screening; Korean

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CONGENITAL ADRENAL HYPERPLASIA; CONGENITAL HYPOTHYROIDISM; ETHNICITY; FEMALE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENOTYPE; GLYCOGEN STORAGE DISEASE TYPE 1; HEARING LOSS; HUMAN; KOREA; MAJOR CLINICAL STUDY; MALE; MATRIX ASSISTED LASER DESORPTION IONIZATION TIME OF FLIGHT MASS SPECTROMETRY; NON SYNDROMIC HEARING LOSS; PHENYLKETONURIA; WILSON DISEASE;

46, XY DISORDERS OF SEX DEVELOPMENT; ADOLESCENT; ADRENAL HYPERPLASIA, CONGENITAL; ADULT; AGED; ALLELES; CONGENITAL HYPOTHYROIDISM; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GENES, RECESSIVE; GENETIC TESTING; GLYCOGEN STORAGE DISEASE TYPE I; HEARING LOSS; HEPATOLENTICULAR DEGENERATION; HETEROZYGOTE; HUMANS; INCIDENCE; MALE; MIDDLE AGED; MUTATION; PHENYLKETONURIAS; REPUBLIC OF KOREA; YOUNG ADULT;

EID: 84863235638     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2011.144     Document Type: Article

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