Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1

European Journal of Human Genetics

Volumn 23, Issue 4, 2015, Pages 486-493

  Eggers, Stefanie ^a,b   Smith, Katherine R ^b,c   Bahlo, Melanie ^c,d   Looijenga, Leendert H J ^e   Drop, Stenvert L S ^f   Juniarto, Zulfa A ^g   Harley, Vincent R ^h   Koopman, Peter ⁱ   Faradz, Sultana M H ^g   Sinclair, Andrew H ^a,b  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c WALTER AND ELIZA HALL INSTITUTE OF MEDICAL RESEARCH   (Australia)

^d UNIVERSITY OF MELBOURNE   (Australia)

^e ERASMUS MEDICAL CENTER   (Netherlands)

^f SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^g DIPONEGORO UNIVERSITY   (Indonesia)

^h HUDSON INSTITUTE OF MEDICAL RESEARCH   (Australia)

ⁱ UNIVERSITY OF QUEENSLAND   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

STEROIDOGENIC FACTOR 1; NR5A1 PROTEIN, HUMAN;

46,XX PREMATURE OVARIAN INSUFFICIENCY; ADULT; ANIMAL CELL; ARTICLE; CHILD; CHROMOSOME 9; DISORDER OF SEX DEVELOPMENT; EXON; FEMALE; GENE DELETION; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC LINKAGE; GENETIC VARIABILITY; GENOTYPE; GONAD DEVELOPMENT; HUMAN; LINKAGE ANALYSIS; MALE; NONHUMAN; OVARY FUNCTION; PARALLEL DESIGN; PREMATURE OVARIAN FAILURE; PRIORITY JOURNAL; PROTEIN BINDING; REGULATORY MECHANISM; SCHOOL CHILD; STEROIDOGENESIS; TESTIS DEVELOPMENT; WHOLE EXOME SEQUENCING; YOUNG ADULT; ANIMAL; BIOLOGY; CELL LINE; CHLOROCEBUS AETHIOPS; COS 1 CELL LINE; EXOME; GENETIC VARIATION; GENETICS; GENOME-WIDE ASSOCIATION STUDY; HEK293 CELL LINE; MOUSE; PEDIGREE; PHENOTYPE; PLASMID; PROTEIN CONFORMATION;

ADULT; ANIMALS; CELL LINE; CERCOPITHECUS AETHIOPS; CHILD; CHROMOSOMES, HUMAN, PAIR 9; COMPUTATIONAL BIOLOGY; COS CELLS; DISORDERS OF SEX DEVELOPMENT; EXOME; FEMALE; GENE DELETION; GENETIC LINKAGE; GENETIC VARIATION; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HEK293 CELLS; HUMANS; MALE; MICE; PEDIGREE; PHENOTYPE; PLASMIDS; PRIMARY OVARIAN INSUFFICIENCY; PROTEIN CONFORMATION; STEROIDOGENIC FACTOR 1; YOUNG ADULT;

EID: 84924719923     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.130     Document Type: Article

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