Carrier frequency of the RSH/Smith-Lemli-Opitz IVS8-1G>C mutation in African Americans [2]

American Journal of Medical Genetics

Volumn 120 A, Issue 1, 2003, Pages 139-141

  Wright, Brooke S ^b   Nwokoro, Ngozi A ^b   Wassif, Christopher A ^b   Porter, Forbes D ^a,b   Waye, John S ^c   Eng, Barry ^c   Nowaczyk, Małgorzata J M ^c  

^a Building 10 ^*  (United States)

^b EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^c MCMASTER UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

AUTOSOMAL RECESSIVE DISORDER; ETHNIC GROUP; GENE MUTATION; HAPLOTYPE; HETEROZYGOTE; HUMAN; LETTER; MAJOR CLINICAL STUDY; MENTAL RETARDATION MALFORMATION SYNDROME; MULTIPLE MALFORMATION SYNDROME; NEGRO; NEWBORN SCREENING; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SMITH LEMLI OPITZ SYNDROME;

AFRICAN CONTINENTAL ANCESTRY GROUP; ALLELES; DNA MUTATIONAL ANALYSIS; GENE FREQUENCY; GENETIC SCREENING; GENOTYPE; HAPLOTYPES; HETEROZYGOTE; HUMANS; MENTAL RETARDATION; MUTATION; PHENOTYPE; POINT MUTATION; SMITH-LEMLI-OPITZ SYNDROME; UNITED STATES;

EID: 0041821744     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (18)

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