Two homozygous nonsense mutations of GNPTAB gene in two Chinese families with mucolipidosis II alpha/beta using targeted next-generation sequencing

Genomics

Volumn 102, Issue 3, 2013, Pages 169-173

  Yang, Yao ^a   Wu, Jian ^b   Liu, Haihong ^a   Chen, Xiaochun ^a   Wang, Ying ^a   Zhao, Mancang ^a   He, Xiyu ^a  

^a CHINESE PLA GENERAL HOSPITAL   (China)

^b MyGenostics Inc   (United States)

Author keywords

Massively parallel sequencing; Mucolipidosis; N acetylglucosamine 1 phosphotransferase; Nonsense mutation

Indexed keywords

N ACETYLGLUCOSAMINE 1 PHOSPHOTRANSFERASE; PHOSPHOTRANSFERASE; UNCLASSIFIED DRUG;

CARDIAC IMAGING; CASE REPORT; CHILD; CHINESE; CLINICAL FEATURE; CONTROLLED STUDY; ECHOGRAPHY; ENZYME ACTIVITY; ENZYME ASSAY; EXON; FACE DYSMORPHIA; FEMALE; GENE; GENE LOCATION; GENE SEQUENCE; GENE TARGETING; GENETIC ANALYSIS; GENETIC IDENTIFICATION; GENETIC VARIABILITY; GNPTAB GENE; HEART LEFT VENTRICLE HYPERTROPHY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INDEL MUTATION; INFANT; MALE; MUCOLIPIDOSIS TYPE 2; NEWBORN; NONSENSE MUTATION; PATHOGENESIS; PRESCHOOL CHILD; PRIORITY JOURNAL; REVIEW; SPLENOMEGALY;

MASSIVELY-PARALLEL SEQUENCING; MUCOLIPIDOSIS; N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE; NONSENSE MUTATION;

CHINA; CODON, NONSENSE; FEMALE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HOMOZYGOTE; HUMANS; INFANT; LYSOSOMES; MALE; MUCOLIPIDOSES; SEQUENCE ANALYSIS, DNA; TRANSFERASES (OTHER SUBSTITUTED PHOSPHATE GROUPS);

EID: 84882684958     PISSN: 08887543     EISSN: 10898646     Source Type: Journal    
DOI: 10.1016/j.ygeno.2013.06.001     Document Type: Review

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