Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit ( GNPTG) gene in patients with mucolipidosis III gamma

Human Mutation

Volumn 30, Issue 6, 2009, Pages 978-984

  Persichetti, Emanuele ^a   Chuzhanova, Nadia A ^b   Dardis, Andrea ^c   Tappino, Barbara ^d   Pohl, Sandra ^e   Thomas, Nick S T ^f   Rosano, Camillo ^g   Balducci, Chiara ^a   Paciotti, Silvia ^a   Dominissini, Silvia ^c   Montalvo, Anna Lisa ^c   Sibilio, Michela ^h   Parini, Rossella ⁱ   Rigoldi, Miriam ⁱ   Di Rocco, Maja ^d   Parenti, Giancarlo ^h,j   Orlacchio, Aldo ^a   Bembi, Bruno ^c,k   Cooper, David N ^f   Filocamo, Mirella ^d   Beccari, Tommaso ^a   more..

^a UNIVERSITY OF PERUGIA   (Italy)

^b UNIVERSITY OF CENTRAL LANCASHIRE   (United Kingdom)

^c INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

^d G GASLINI INSTITUTE   (Italy)

^e UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^f CARDIFF UNIVERSITY   (United Kingdom)

^g UNIVERSITY OF GENOA   (Italy)

^h UNIVERSITY OF NAPLES FEDERICO II   (Italy)

ⁱ SAN GERARDO HOSPITAL   (Italy)

^j TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^k SANTA MARIA DELLA MISERICORDIA UNIVERSITY HOSPITAL   (Italy)

more..

Author keywords

GNPTG; Microdeletions; MLIII; Mucolipidosis type III; Nonsense mediated mRNA decay

Indexed keywords

ANISOMYCIN; DINUCLEOTIDE; HYDROLASE; MESSENGER RNA; PHOSPHOTRANSFERASE; RNA; UNCLASSIFIED DRUG; URIDINE DIPHOSPHATE N ACETYLGLUCOSAMINE; URIDINE DIPHOSPHATE N ACETYLGLUCOSAMINE 1 PHOSPHOTRANSFERASE GAMMA;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; EXON; FEMALE; FIBROBLAST; GENE; GENE DELETION; GENE MUTATION; GNPTG GENE; HOMOZYGOTE; HUMAN; HUMAN CELL; INTRON; MALE; MISSENSE MUTATION; MUCOLIPIDOSIS TYPE 3; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN SYNTHESIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA DEGRADATION; RNA SPLICING; RNA TRANSCRIPTION; WESTERN BLOTTING;

ADOLESCENT; ADULT; ALTERNATIVE SPLICING; BASE SEQUENCE; CHILD; CODON, NONSENSE; FEMALE; FIBROBLASTS; GENOTYPE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUCOLIPIDOSES; MUTATION; MUTATION, MISSENSE; PROTEIN SUBUNITS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICE SITES; RNA STABILITY; RNA, MESSENGER; SEQUENCE DELETION; TRANSFERASES (OTHER SUBSTITUTED PHOSPHATE GROUPS);

EID: 66349127106     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20959     Document Type: Article

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