Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability

Journal of Clinical Investigation

Volumn 125, Issue 1, 2015, Pages 258-262

  AlAsiri, Saleh ^a   Basit, Sulman ^b   Wood Trageser, Michelle A ^c   Yatsenko, Svetlana A ^c,d   Jeffries, Elizabeth P ^e   Surti, Urvashi ^c,d   Ketterer, Deborah M ^c   Afzal, Sibtain ^f   Ramzan, Khushnooda ^g   Faiyaz Ul Haque, Muhammad ^f   Jiang, Huaiyang ^c   Trakselis, Michael A ^e,h   Rajkovic, Aleksandar ^c,d,e  

^a KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

^b TAIBAH UNIVERSITY   (Saudi Arabia)

^c UNIVERSITY OF PITTSBURGH   (United States)

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

^e UNIVERSITY OF PITTSBURGH   (United States)

^f KING SAUD UNIVERSITY   (Saudi Arabia)

^g KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^h BAYLOR UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BUTADIENE DIEPOXIDE; DNA; MINICHROMOSOME MAINTENANCE PROTEIN 8; MCM8 PROTEIN, HUMAN; MINICHROMOSOME MAINTENANCE PROTEIN; PROTEIN BINDING;

AMINO TERMINAL SEQUENCE; ANIMAL CELL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHROMOSOMAL INSTABILITY; CHROMOSOME 20P; CHROMOSOME ABERRATION; CHROMOSOME BREAKAGE; DNA DAMAGE; DNA FLANKING REGION; DNA REPAIR; EXOME; FEMALE; FIBROBLAST; GENE SEQUENCE; GENETIC LINKAGE; HOMOZYGOSITY; HUMAN; HUMAN CELL; HYPERGONADOTROPIC HYPOGONADISM; HYPOTHYROIDISM; MISSENSE MUTATION; MOLECULAR PATHOLOGY; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PERIPHERAL LYMPHOCYTE; PREMATURE OVARIAN FAILURE; PRIMARY AMENORRHEA; PROTEIN DNA BINDING; PROTEIN DOMAIN; SINGLE NUCLEOTIDE POLYMORPHISM; CONSANGUINITY; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETICS; HEK293 CELL LINE; MIDDLE AGED; PEDIGREE;

CHROMOSOMAL INSTABILITY; CONSANGUINITY; DNA REPAIR; EXOME; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HEK293 CELLS; HUMANS; LOD SCORE; MIDDLE AGED; MINICHROMOSOME MAINTENANCE PROTEINS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PRIMARY OVARIAN INSUFFICIENCY; PROTEIN BINDING;

EID: 84920470819     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI78473     Document Type: Article

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