A novel compound heterozygous mutation in the DAP12 gene in a patient with Nasu-Hakola disease

Journal of the Neurological Sciences

Volumn 252, Issue 1, 2007, Pages 88-91

  Kuroda, Ryo ^a   Satoh, Junichi ^b,c   Yamamura, Takashi ^b   Anezaki, Toshiharu ^d   Terada, Tatsuhiro ^a   Yamazaki, Kinya ^a   Obi, Tomokazu ^a   Mizoguchi, Kouichi ^a  

^a SHIZUOKA INSTITUTE OF EPILEPSY AND NEUROLOGICAL DISORDERS   (Japan)

^b NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^c MEIJI PHARMACEUTICAL UNIVERSITY   (Japan)

^d NUMAZU CITY HOSPITAL   (Japan)

Author keywords

Compound heterozygote; DAP12; Loss of function mutations; Nasu Hakola disease; TYROBP

Indexed keywords

KILLER CELL ACTIVATING RECEPTOR ASSOCIATED PROTEIN; NUCLEIC ACID BASE; POLYPEPTIDE;

ADULT; ALLELE; AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL FEATURE; EXON; FEMALE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOSITY LOSS; HETEROZYGOTE DETECTION; HUMAN; LEUKOENCEPHALOPATHY; MEMBRANOUS LIPODYSTROPHY; NEUROLOGIC EXAMINATION; NUCLEOTIDE SEQUENCE; POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY; PRIORITY JOURNAL; PROTEIN MOTIF;

ADULT; BONE CYSTS; BRAIN DISEASES; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GLUTAMIC ACID; HUMANS; MAGNETIC RESONANCE IMAGING; MEMBRANE GLYCOPROTEINS; MUTATION; OSTEOCHONDRODYSPLASIAS; RECEPTORS, IMMUNOLOGIC;

EID: 33845387882     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2006.09.019     Document Type: Article

References (14)

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