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Volumn 46, Issue 8, 2014, Pages 815-817
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Mutations in ZBTB20 cause Primrose syndrome
a b a c a b d a a a e f g h i j k l m m more.. |
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Author keywords
[No Author keywords available]
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Indexed keywords
ZINC FINGER PROTEIN;
NERVE PROTEIN;
TRANSCRIPTION FACTOR;
ZBTB20 PROTEIN, HUMAN;
ARTICLE;
CASE REPORT;
CHROMOSOME 13Q;
EXOME;
GENE SEQUENCE;
GENETIC VARIABILITY;
GENOTYPE;
GROWTH DISORDER;
HUMAN;
HUMAN TISSUE;
MISSENSE MUTATION;
PRIMROSE SYNDROME;
PRIORITY JOURNAL;
AMINO ACID SEQUENCE;
CALCINOSIS;
CELL LINE;
CHEMICAL STRUCTURE;
CHROMOSOME 3;
CHROMOSOME DELETION;
DEVELOPMENTAL DISORDER;
EAR DISEASE;
FEMALE;
GENETIC PREDISPOSITION;
GENETICS;
HEK293 CELL LINE;
INTELLECTUAL IMPAIRMENT;
MALE;
MOLECULAR GENETICS;
MULTIPLE MALFORMATION SYNDROME;
MUSCLE ATROPHY;
NUCLEOTIDE SEQUENCE;
SEQUENCE HOMOLOGY;
ABNORMALITIES, MULTIPLE;
AMINO ACID SEQUENCE;
BASE SEQUENCE;
CALCINOSIS;
CELL LINE;
CHROMOSOME DELETION;
CHROMOSOMES, HUMAN, PAIR 3;
DEVELOPMENTAL DISABILITIES;
EAR DISEASES;
FEMALE;
GENETIC PREDISPOSITION TO DISEASE;
HEK293 CELLS;
HUMANS;
INTELLECTUAL DISABILITY;
MALE;
MODELS, MOLECULAR;
MOLECULAR SEQUENCE DATA;
MUSCULAR ATROPHY;
MUTATION, MISSENSE;
NERVE TISSUE PROTEINS;
SEQUENCE HOMOLOGY, AMINO ACID;
TRANSCRIPTION FACTORS;
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EID: 84905569324
PISSN: 10614036
EISSN: 15461718
Source Type: Journal
DOI: 10.1038/ng.3035 Document Type: Article |
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Times cited : (78)
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References (37)
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