Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis

PLoS ONE

Volumn 9, Issue 10, 2014, Pages

  Patiño, Liliana Catherine ^a   Battu, Rajani ^b   Ortega Recalde, Oscar ^a   Nallathambi, Jeyabalan ^b   Anandula, Venkata Ramana ^b   Renukaradhya, Umashankar ^b   Laissue, Paul ^a  

^a UNIVERSIDAD DEL ROSARIO   (Colombia)

^b Department of Vitreoretina Narayana Nethralaya ^*  (India)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE; MAJOR FACILITATOR SUPERFAMILY DOMAIN CONTAINING PROTEIN 8; METHIONINE; STRUCTURAL PROTEIN; THREONINE; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; CASE REPORT; CHILD; CLN5 GENE; CLN6 GENE; CLN7 GENE; CLN8 GENE; FEMALE; GENE; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SELECTION; HIGH THROUGHPUT SEQUENCING; HUMAN; MALE; MOLECULAR DIAGNOSIS; NEURONAL CEROID LIPOFUSCINOSIS; PEDIGREE ANALYSIS; PHENOTYPE; PROTEIN STABILITY; SCHOOL CHILD; SEQUENCE ANALYSIS; SIBLING; VARIANT LATE INFANTILE NEURONAL CEROID LIPOFUSCINOSIS; WHOLE EXOME SEQUENCING; DNA SEQUENCE; EXOME; GENETICS; MOLECULAR PATHOLOGY; MUTATION; NEURONAL CEROID-LIPOFUSCINOSES; PRESCHOOL CHILD; PROCEDURES;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; EXOME; FEMALE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MUTATION; NEURONAL CEROID-LIPOFUSCINOSES; PATHOLOGY, MOLECULAR; SEQUENCE ANALYSIS, DNA;

EID: 84908108288     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0109576     Document Type: Article

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