Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration

European Journal of Human Genetics

Volumn 20, Issue 4, 2012, Pages 476-479

  Pierson, Tyler Mark ^a,b   Simeonov, Dimitre R ^a   Sincan, Murat ^a   Adams, David A ^a   Markello, Thomas ^a   Golas, Gretchen ^a,c   Fuentes Fajardo, Karin ^a   Hansen, Nancy F ^a   Cherukuri, Praveen F ^a   Cruz, Pedro ^a   Mullikin, James C ^a   Blackstone, Craig ^b   Tifft, Cynthia ^a   Boerkoel, Cornelius F ^a   Gahl, William A ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b Porter Neuroscience Research Center   (United States)

^c NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

deletion analysis; exome sequencing; fatty acid 2 hydroxylase; fatty acid hydroxylase associated neurodegeneration; neuropathy

Indexed keywords

FATTY ACID 2 HYDROXYLASE; OXYGENASE; UNCLASSIFIED DRUG;

ARTICLE; ATAXIA; CASE REPORT; CHILD; COGNITIVE DEFECT; DYSTONIA; EXOME; GENE DELETION; GENE SEQUENCE; HETEROZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; NERVE DEGENERATION; NEUROPATHY; PHENOTYPE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SPASTIC PARAPLEGIA; SURAL NERVE;

AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; DNA COPY NUMBER VARIATIONS; EXOME; HETEROZYGOTE; HUMANS; MALE; MIXED FUNCTION OXYGENASES; MOLECULAR SEQUENCE DATA; NEURODEGENERATIVE DISEASES; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84858341262     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.222     Document Type: Article

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