Discovery of mutations for Mendelian disorders

Human Genetics

Volumn 135, Issue 6, 2016, Pages 615-623

  Alkuraya, Fowzan S ^a,b  

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

^b ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; FIBROBLAST GROWTH FACTOR RECEPTOR 3;

ALGORITHM; ALLELISM; DNA SEQUENCE; DOMINANT GENE; EXOME; GENE FREQUENCY; GENE MAPPING; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; HUMAN GENOME; MENDELIAN MUTATION; NEXT GENERATION SEQUENCING; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; RECESSIVE GENE; REVIEW; SENSITIVITY AND SPECIFICITY; GENETIC DISORDER; GENETIC PREDISPOSITION; GENETICS; MUTATION;

EXOME; GENETIC DISEASES, INBORN; GENETIC PREDISPOSITION TO DISEASE; GENOME, HUMAN; HUMANS; MUTATION; SEQUENCE ANALYSIS, DNA;

EID: 84962802859     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-016-1664-8     Document Type: Review

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