Homozygous inactivating mutation in NANOS3 in two sisters with primary ovarian insufficiency

BioMed Research International

Volumn 2014, Issue , 2014, Pages

  Santos, Mariza G ^a   Machado, Aline Z ^a   Martins, Conceição N ^a   Domenice, Sorahia ^a   Costa, Elaine M F ^a   Nishi, Mirian Y ^a   Ferraz De Souza, Bruno ^a   Jorge, Soraia A C ^b   Pereira, Carlos A ^b   Soardi, Fernanda C ^c   De Mello, Maricilda P ^c   Maciel Guerra, Andrea T ^c   Guerra Junior, Gil ^c   Mendonca, Berenice B ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b INSTITUTO BUTANTAN   (Brazil)

^c UNIVERSITY OF CAMPINAS   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; NANOS3 PROTEIN; RNA BINDING PROTEIN; UNCLASSIFIED DRUG; NANOS3 PROTEIN, HUMAN; PROTEIN BINDING; RNA; ZINC FINGER PROTEIN;

ADULT; AMINO ACID SUBSTITUTION; ANIMAL CELL; APOPTOSIS; ARTICLE; BRAZIL; COMPUTER MODEL; CONFOCAL MICROSCOPY; CONTROLLED STUDY; COS 1 CELL LINE; EMBRYO; EMBRYO CELL; FEMALE; FLOW CYTOMETRY; GENE; HOMOZYGOTE; HUMAN; HUMAN CELL; IN VITRO STUDY; MAJOR CLINICAL STUDY; MIGRATION; MISSENSE MUTATION; MOLECULAR MODEL; MUTATIONAL ANALYSIS; NANOS3 GENE; NONHUMAN; PREMATURE OVARIAN FAILURE; PRIMARY AMENORRHEA; PRIMORDIAL GERM CELL; PROTEIN RNA BINDING; SECONDARY AMENORRHEA; ZINC FINGER MOTIF; ADOLESCENT; AMENORRHEA; ANIMAL; CASE CONTROL STUDY; CHEMISTRY; CHLOROCEBUS AETHIOPS; GENETICS; MUTATION; YOUNG ADULT;

ADOLESCENT; ADULT; AMENORRHEA; ANIMALS; APOPTOSIS; BRAZIL; CASE-CONTROL STUDIES; CERCOPITHECUS AETHIOPS; COS CELLS; FEMALE; FLOW CYTOMETRY; HOMOZYGOTE; HUMANS; MICROSCOPY, CONFOCAL; MUTATION; PRIMARY OVARIAN INSUFFICIENCY; PROTEIN BINDING; RNA; RNA-BINDING PROTEINS; YOUNG ADULT; ZINC FINGERS;

EID: 84904113928     PISSN: 23146133     EISSN: 23146141     Source Type: Journal    
DOI: 10.1155/2014/787465     Document Type: Article

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