Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis

Clinical Genetics

Volumn 77, Issue 1, 2010, Pages 79-85

  Reinhardt, K ^a   Grapp, M ^a   Schlachter, K ^b   Bruck W ^a   Gartner J ^a   Steinfeld, R ^a  

^a Department of Pediatrics and Pediatric Neurology ^*  (Austria)

^b UNIVERSITY OF GÖTTINGEN   (Germany)

Author keywords

CLN8; LINCL; Mutation; NCL; Neurodegeneration; V LINCL

Indexed keywords

MEMBRANE PROTEIN; PROTEIN CLN8; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BRAIN ATROPHY; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; ETHNIC DIFFERENCE; FEMALE; GENE DELETION; GENE MUTATION; GENETIC VARIABILITY; GERMANY; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; MISSENSE MUTATION; NEURONAL CEROID LIPOFUSCINOSIS; NUCLEOTIDE SEQUENCE; PAKISTAN; PHENOTYPE; PRIORITY JOURNAL; TURKEY (REPUBLIC);

ADOLESCENT; CHILD; FEMALE; GERMANY; HUMANS; MALE; MEMBRANE PROTEINS; NEURONAL CEROID-LIPOFUSCINOSES; PAKISTAN; SEQUENCE DELETION; TURKEY;

EID: 73049116738     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01285.x     Document Type: Article

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