Carrier frequency of two BBS2 mutations in the Ashkenazi population

Clinical Genetics

Volumn 85, Issue 6, 2014, Pages 578-582

  Fedick, A ^a,b   Jalas, C ^c   Abeliovich, D ^d,e   Krakinovsky, Y ^e   Ekstein, J ^d,f   Ekstein, A ^d   Treff, N R ^a,b  

^a RUTGERS ROBERT WOOD JOHNSON MEDICAL SCHOOL   (United States)

^b REPRODUCTIVE MEDICINE ASSOCIATES OF NEW JERSEY   (United States)

^c Bonei Olam Center for Rare Jewish Genetic Disorders   (United States)

^d Dor Yeshorim   (Israel)

^e Mogen Body Laboratory LTD   (Israel)

^f NONE   (United States)

Author keywords

Ashkenazi; Bardet Biedl syndrome; BBS2; C.1895G>C; C.311A>C; Carrier frequency

Indexed keywords

ALLELE; ARTICLE; BBS2 GENE; COGNITIVE DEFECT; CONTROLLED STUDY; FAMILY HISTORY; FEMALE; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC SCREENING; GENOTYPE; HETEROZYGOTE; HUMAN; JEW; LIMB DEFECT; MALE; POLYDACTYLY; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; RESTRICTION MAPPING; RETINITIS PIGMENTOSA; WILD TYPE; BARDET BIEDL SYNDROME; ETHNOLOGY; GENETICS; MUTATION;

BBS2 PROTEIN, HUMAN; PROTEIN;

ALLELES; BARDET-BIEDL SYNDROME; GENE FREQUENCY; GENETIC TESTING; GENOTYPE; HETEROZYGOTE; HUMANS; JEWS; MUTATION; PROTEINS;

EID: 84899491579     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12231     Document Type: Article

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