Galactosialidosis: Review and analysis of CTSA gene mutations

Orphanet Journal of Rare Diseases

Volumn 8, Issue 1, 2013, Pages

  Caciotti, Anna ^a   Catarzi, Serena ^a,b   Tonin, Rodolfo ^a,b   Lugli, Licia ^c   Perez, Carmen Rodriguez ^d   Michelakakis, Helen ^e   Mavridou, Irene ^e   Donati, Maria Alice ^a   Guerrini, Renzo ^a,b   D'Azzo, Alessandra ^f   Morrone, Amelia ^a,b  

^a UNIVERSITY OF FLORENCE   (Italy)

^b UNIVERSITY OF FLORENCE   (Italy)

^c UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^d UO Neonatology   (Italy)

^e AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

^f ST JUDE CHILDREN S RESEARCH HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARBOXYPEPTIDASE C; GENOMIC DNA;

AMINO ACID SUBSTITUTION; CASE REPORT; CHILD; COMPUTER MODEL; CONTROLLED STUDY; CTSA GENE; DISEASE SEVERITY; DNA SEQUENCE; ENZYME ASSAY; EXON; FACE DEFORMITY; FAILURE TO THRIVE; FEMALE; FETUS HYDROPS; GALACTOSIALIDOSIS; GENE; GENE AMPLIFICATION; GENE MUTATION; GENETIC VARIABILITY; GENOMIC FRAGMENT; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; GROWTH RETARDATION; HEPATOSPLENOMEGALY; HOMOZYGOTE; HUMAN; HUMAN CELL; HUMAN CELL CULTURE; INFANT; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PHENOTYPE; POINT MUTATION; PRESCHOOL CHILD; RESPIRATORY DISTRESS; REVIEW; SKIN FIBROBLAST; STOP CODON; STRUCTURE ANALYSIS;

CATHEPSIN A; COMPUTATIONAL BIOLOGY; GENETIC ASSOCIATION STUDIES; LYSOSOMAL STORAGE DISEASES; MUTATION; MUTATION, MISSENSE; SEQUENCE ANALYSIS, DNA;

EID: 84881453876     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-8-114     Document Type: Review

References (28)

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