A non-sense MCM9 mutation in a familial case of primary ovarian insufficiency

Clinical Genetics

Volumn 89, Issue 5, 2016, Pages 603-607

  Fauchereau, F ^a,b   Shalev, S ^c,d   Chervinsky, E ^c,d   Beck Fruchter, R ^d   Legois, B ^a,b   Fellous, M ^b,e   Caburet, S ^a,b   Veitia, R A ^a,b  

^a INSTITUT JACQUES MONOD   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^d HAEMEK MEDICAL CENTER   (Israel)

^e INSTITUT COCHIN   (France)

Author keywords

Exome sequencing; Infertility; MCM9; Primary ovarian insufficiency; Reproductive medicine

Indexed keywords

ESTRADIOL; ESTROGEN; FOLLITROPIN; LUTEINIZING HORMONE; MESSENGER RNA; MINICHROMOSOME MAINTENANCE PROTEIN 9; MCM9 PROTEIN, HUMAN; MINICHROMOSOME MAINTENANCE PROTEIN; STOP CODON;

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CELL DEGENERATION; CONSANGUINEOUS MARRIAGE; DNA REPAIR; DOUBLE STRANDED DNA BREAK; ESTRADIOL BLOOD LEVEL; ESTROGEN BLOOD LEVEL; EXON; FAMILIAL DISEASE; FEMALE; FOLLITROPIN BLOOD LEVEL; GENE FREQUENCY; GENE MAPPING; GENETIC VARIABILITY; HOMOLOGOUS RECOMBINATION; HOMOZYGOSITY; HUMAN; KARYOTYPE 46,XX; LINKAGE ANALYSIS; LUTEINIZING HORMONE BLOOD LEVEL; MEIOTIC RECOMBINATION; NONSENSE MUTATION; OOCYTE; PREMATURE OVARIAN FAILURE; PRIMARY AMENORRHEA; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SHORT STATURE; SINGLE NUCLEOTIDE POLYMORPHISM; STOP CODON; WHOLE EXOME SEQUENCING; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; INDEL MUTATION; MALE; NUCLEOTIDE SEQUENCE; PEDIGREE;

BASE SEQUENCE; CODON, NONSENSE; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; INDEL MUTATION; MALE; MINICHROMOSOME MAINTENANCE PROTEINS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PRIMARY OVARIAN INSUFFICIENCY;

EID: 84958213536     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12736     Document Type: Article

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