Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns

Human Molecular Genetics

Volumn 24, Issue 21, 2015, Pages 5995-6002

  Turner, Tychele N ^a,b   Douville, Christopher ^d   Kim, Dewey ^d   Stenson, Peter D ^e   Cooper, David N ^e   Chakravarti, Aravinda ^b   Karchin, Rachel ^c,d  

^a JOHNS HOPKINS UNIVERSITY   (United States)

^b Center for Complex Disease Genomics   (United States)

^c JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d Johns Hopkins University   (United States)

^e CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN;

AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; GAIN OF FUNCTION MUTATION; HUMAN; LOSS OF FUNCTION MUTATION; MISSENSE MUTATION; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN DOMAIN; BIOLOGY; DOMINANT GENE; GENETIC DATABASE; GENETIC DISORDER; GENETICS; HUMAN GENOME; MOLECULAR GENETICS; MULTIGENE FAMILY; RECESSIVE GENE;

COMPUTATIONAL BIOLOGY; DATABASES, GENETIC; GENES, DOMINANT; GENES, RECESSIVE; GENETIC DISEASES, INBORN; GENOME, HUMAN; HUMANS; MOLECULAR SEQUENCE ANNOTATION; MULTIGENE FAMILY; MUTATION, MISSENSE; PROTEINS;

EID: 84949257272     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddv309     Document Type: Article

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