The candidate gene approach to the diagnosis of monogenic disorders

Hormone Research

Volumn 71, Issue SUPPL. 2, 2009, Pages 14-21

  Dattani, Mehul T ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Comparative genomic hybridization; Murine transgenesis; Single nucleotide polymorphism arrays

Indexed keywords

GROWTH HORMONE RELEASING FACTOR; TRANSCRIPTION FACTOR HESX1; TRANSCRIPTION FACTOR PIT 1; TRANSCRIPTION FACTOR SOX3;

CHD7 GENE; CHROMOSOME ABERRATION; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME TRANSLOCATION; CONFERENCE PAPER; EYE MALFORMATION; GENE; GENE IDENTIFICATION; GENE MAPPING; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; HYPOPITUITARISM; HYPOTHALAMUS HYPOPHYSIS SYSTEM; MICROSATELLITE MARKER; MONOGENIC DISORDER; NONHUMAN; PRIORITY JOURNAL; SEPTOOPTIC DYSPLASIA; SINGLE NUCLEOTIDE POLYMORPHISM; SOX2 GENE; SOX3 GENE; SYNDROME CHARGE;

ANIMALS; CHROMOSOME ABERRATIONS; COMPARATIVE GENOMIC HYBRIDIZATION; DISEASE MODELS, ANIMAL; GENETIC DISEASES, INBORN; HUMANS; HYPOTHALAMO-HYPOPHYSEAL SYSTEM; MICE; MICE, TRANSGENIC; POLYMORPHISM, SINGLE NUCLEOTIDE; SOXB1 TRANSCRIPTION FACTORS;

EID: 66749148282     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000192431     Document Type: Conference Paper

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