Analysis of mutations causing biotinidase deficiency

Human Mutation

Volumn 31, Issue 9, 2010, Pages 983-991

  Pindolia, Kirit ^a,b   Jordan, Megan ^a   Wolf, Barry ^a,b  

^a HENRY FORD HOSPITAL   (United States)

^b WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Biocytin; Biotin; Biotinidase deficiency; BTD; Computer modeling; Newborn screening

Indexed keywords

AMIDASE; BIOTINIDASE; COMPLEMENTARY DNA; NITRILASE;

BIOTINIDASE DEFICIENCY; CODON; ENZYME ACTIVITY; ENZYME STRUCTURE; EXON; GENE DELETION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENETIC ORGANIZATION; GENETIC VARIABILITY; HUMAN; INTRON; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PRIORITY JOURNAL; REVIEW; SEQUENCE HOMOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSCRIPTION INITIATION SITE;

AMINO ACID SEQUENCE; BIOTINIDASE; BIOTINIDASE DEFICIENCY; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION;

EID: 77956295992     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21303     Document Type: Review

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