Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS

Scientific Reports

Volumn 5, Issue , 2015, Pages

  Steinberg, Karyn Meltz ^a   Yu, Bing ^b   Koboldt, Daniel C ^a   Mardis, Elaine R ^a   Pamphlett, Roger ^c  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF SYDNEY   (Australia)

^c UNIVERSITY OF SYDNEY   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; EXOME; FEMALE; GENETIC VARIATION; GENETICS; GENOTYPE; HIGH THROUGHPUT SEQUENCING; HUMAN; MALE; MIDDLE AGED; MUTATION; ONSET AGE; RECESSIVE GENE; VERY ELDERLY;

ADULT; AGE OF ONSET; AGED; AGED, 80 AND OVER; AMYOTROPHIC LATERAL SCLEROSIS; EXOME; FEMALE; GENES, RECESSIVE; GENETIC VARIATION; GENOTYPE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MIDDLE AGED; MUTATION;

EID: 84924942716     PISSN: None     EISSN: 20452322     Source Type: Journal    
DOI: 10.1038/srep09124     Document Type: Article

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