Age-dependent germline mosaicism of the most common noonan syndrome mutation shows the signature of germline selection

American Journal of Human Genetics

Volumn 92, Issue 6, 2013, Pages 917-926

  Yoon, Song Ro ^a   Choi, Soo Kung ^a   Eboreime, Jordan ^a   Gelb, Bruce D ^b   Calabrese, Peter ^a   Arnheim, Norman ^a  

^a UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^b MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIN D1; STAT3 PROTEIN;

ACROCEPHALOSYNDACTYLY; ADULT; AGED; ARTICLE; CELL DIFFERENTIATION; GENE CLUSTER; GENE MUTATION; HUMAN; HUMAN TISSUE; MALE; MOSAICISM; MULTIGENE FAMILY; NOONAN SYNDROME; PRIORITY JOURNAL; SOMATIC HYPERMUTATION; SPERMATOGONIUM; TESTIS;

ADULT; AGE FACTORS; AGED; AGED, 80 AND OVER; AGING; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GERM-LINE MUTATION; HUMANS; MALE; MIDDLE AGED; MODELS, GENETIC; MOSAICISM; NOONAN SYNDROME; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 11; SELECTION, GENETIC; SPERMATOGONIA; TESTIS; YOUNG ADULT;

EID: 84878845351     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.05.001     Document Type: Article

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