Novel mutations in the PNPLA6 gene in Boucher-Neuhaüser syndrome

Journal of Human Genetics

Volumn 60, Issue 4, 2015, Pages 217-220

  Koh, Kishin ^a   Kobayashi, Fumikazu ^a   Miwa, Michiaki ^a   Shindo, Kazumasa ^a   Isozaki, Eiji ^b   Ishiura, Hiroyuki ^c   Tsuji, Shoji ^c   Takiyama, Yoshihisa ^a  

^a UNIVERSITY OF YAMANASHI   (Japan)

^b TOKYO METROPOLITAN NEUROLOGICAL HOSPITAL   (Japan)

^c UNIVERSITY OF TOKYO   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; LYSOPHOSPHOLIPASE; PROTEIN PNPLA6; UNCLASSIFIED DRUG; PHOSPHOLIPASE; PNPLA6 PROTEIN, HUMAN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BOUCHER NEUHAUSER SYNDROME; CASE REPORT; EXOME; GENE SEQUENCE; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; JAPANESE (PEOPLE); MALE; MISSENSE MUTATION; RETINA DYSTROPHY; SPINOCEREBELLAR DEGENERATION; FEMALE; GENETIC ASSOCIATION; GENETICS; HETEROZYGOTE; HIGH THROUGHPUT SEQUENCING; HOMOZYGOTE; HYPOGONADISM; MUTATION; NEUTROPHIL; NUCLEOTIDE SEQUENCE; PATHOLOGY; RETINAL DYSTROPHIES; SPINOCEREBELLAR ATAXIAS;

BASE SEQUENCE; EXOME; FEMALE; GENETIC ASSOCIATION STUDIES; HETEROZYGOTE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HOMOZYGOTE; HUMANS; HYPOGONADISM; MALE; MUTATION; NEUTROPHILS; PHOSPHOLIPASES; RETINAL DYSTROPHIES; SPINOCEREBELLAR ATAXIAS;

EID: 84929088133     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2015.3     Document Type: Article

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