Erratum: Identification of 83 novel alpha-mannosidosis-associated sequence variants: Functional analysis of MAN2B1 missense mutations (Human Mutation, 37, 8, 10.1002/humu.22005);Identification of 83 novel alpha-mannosidosis-associated sequence variants: Functional analysis of MAN2B1 missense mutations

Human Mutation

Volumn 33, Issue 3, 2012, Pages 511-520

  Riise Stensland, Hilde Monica Frostad ^a   Klenow, Helle Bagterp ^a   Nguyen, Lam Van ^a   Hansen, Gaute Martin ^b   Malm, Dag ^a   Nilssen, Øivind ^a,b  

^a UNIVERSITY HOSPITAL OF NORTH NORWAY   (Norway)

^b UNIVERSITY OF TROMSØ   (Norway)

Author keywords

Alpha mannosidosis; Functional studies; Lysosomal enzyme; Lysosomal storage disorder; MAN2B1; Mutation spectrum

Indexed keywords

ALPHA MANNOSIDASE; COMPLEMENTARY DNA; MAN2B1 PROTEIN; UNCLASSIFIED DRUG;

ALLELE; ANIMAL CELL; ARTICLE; CELL CULTURE; CORRELATION ANALYSIS; DISEASE ASSOCIATION; ENZYME ACTIVITY; EXON; FEMALE; GENE DELETION; GENE DUPLICATION; GENE INSERTION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; INTRON; MAJOR CLINICAL STUDY; MANNOSIDOSIS; MISSENSE MUTATION; NONHUMAN; NONSENSE MUTATION; PATHOGENICITY; PHENOTYPE; PRIORITY JOURNAL;

EID: 84857123242     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.23002     Document Type: Erratum

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