MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability

American Journal of Human Genetics

Volumn 95, Issue 6, 2014, Pages 754-762

  Wood Trageser, Michelle A ^a   Gurbuz, Fatih ^b   Yatsenko, Svetlana A ^a,c   Jeffries, Elizabeth P ^d   Kotan, L Damla ^e   Surti, Urvashi ^a,c   Ketterer, Deborah M ^a   Matic, Jelena ^a   Chipkin, Jacqueline ^a   Jiang, Huaiyang ^a   Trakselis, Michael A ^d   Topaloglu, A Kemal ^b   Rajkovic, Aleksandar ^a,c,d  

^a UNIVERSITY OF PITTSBURGH   (United States)

^b CUKUROVA UNIVERSITY FACULTY OF MEDICINE   (Turkey)

^c UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF PITTSBURGH   (United States)

^e CUKUROVA UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

ESTRADIOL; ESTROGEN; FOLLITROPIN; GESTAGEN; LUTEINIZING HORMONE; MINICHROMOSOME MAINTENANCE PROTEIN 9; PROLACTIN; MCM9 PROTEIN, HUMAN; MINICHROMOSOME MAINTENANCE PROTEIN; RNA SPLICING;

ALTERNATIVE RNA SPLICING; ARTICLE; CHROMOSOMAL INSTABILITY; COMPARATIVE GENOMIC HYBRIDIZATION; DOUBLE STRANDED DNA BREAK; FEMALE; GENE MUTATION; GENETIC VARIABILITY; HOMOLOGOUS RECOMBINATION; HORMONE BLOOD LEVEL; HORMONE SUBSTITUTION; HUMAN; HYPERGONADOTROPIC HYPOGONADISM; KARYOTYPE 46,XX; PREMATURE OVARIAN FAILURE; PRIMARY AMENORRHEA; SEQUENCE ANALYSIS; SHORT STATURE; SINGLE NUCLEOTIDE POLYMORPHISM; ADOLESCENT; ADULT; AMENORRHEA; CELL LINE; CHROMOSOME ABERRATION; CONSANGUINITY; DNA REPAIR; DNA SEQUENCE; DWARFISM; EXOME; GENETICS; HOMOZYGOTE; MIDDLE AGED; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; RNA SPLICING; YOUNG ADULT;

ABNORMAL KARYOTYPE; ADOLESCENT; ADULT; AMENORRHEA; BASE SEQUENCE; CELL LINE; CHROMOSOMAL INSTABILITY; CONSANGUINITY; DNA BREAKS, DOUBLE-STRANDED; DNA REPAIR; DWARFISM; EXOME; FEMALE; HOMOLOGOUS RECOMBINATION; HOMOZYGOTE; HUMANS; MIDDLE AGED; MINICHROMOSOME MAINTENANCE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PRIMARY OVARIAN INSUFFICIENCY; RNA SPLICE SITES; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 84919620879     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2014.11.002     Document Type: Article

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