ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous

Human Molecular Genetics

Volumn 21, Issue 16, 2012, Pages 3681-3694

  Prasov, Lev ^a   Masud, Tehmina ^a   Khaliq, Shagufta ^b   Mehdi, S Qasim ^c   Abid, Aiysha ^c   Oliver, Edward R ^d   Silva, Eduardo D ^e   Lewanda, Amy ^f   Brodsky, Michael C ^g   Borchert, Mark ^h   Kelberman, Daniel ⁱ   Sowden, Jane C ⁱ   Dattani, Mehul T ^j   Glaser, Tom ^a  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF HEALTH SCIENCES   (Pakistan)

^c SINDH INSTITUTE OF UROLOGY AND TRANSPLANTATION   (Pakistan)

^d HOSPITAL OF THE UNIVERSITY OF PENNSYLVANIA   (United States)

^e UNIVERSITY OF COIMBRA   (Portugal)

^f INOVA FAIRFAX HOSPITAL FOR CHILDREN   (United States)

^g MAYO CLINIC   (United States)

^h CHILDREN S HOSPITAL LOS ANGELES   (United States)

ⁱ UNIVERSITY COLLEGE LONDON   (United Kingdom)

^j GREAT ORMOND STREET HOSPITAL   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ATOH7 PROTEIN; CONTACTIN; LUCIFERASE; MUTANT PROTEIN; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; APLASIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 10Q; COHORT ANALYSIS; CONTROLLED STUDY; GEL MOBILITY SHIFT ASSAY; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENETIC LINKAGE; GENETIC SCREENING; GENETIC VARIABILITY; HOMOZYGOSITY; HYPOPLASIA; MOUSE; NONHUMAN; OPTIC NERVE DISEASE; PERSISTENT PRIMARY VITREOUS HYPERPLASIA; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DNA BINDING; PROTEIN DOMAIN; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSCRIPTION INITIATION; VITREOUS DISEASE; WILD TYPE;

ANIMALS; BASE SEQUENCE; BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTORS; CHROMOSOMES, HUMAN, PAIR 10; FEMALE; GENES, RECESSIVE; HELIX-LOOP-HELIX MOTIFS; HUMANS; HYPERPLASIA; INFANT; MICE; MICE, MUTANT STRAINS; MOLECULAR SEQUENCE DATA; MUTATION; NERVE TISSUE PROTEINS; OPTIC NERVE; ORGAN CULTURE TECHNIQUES; PEDIGREE; RETINAL DISEASES; VITREOUS BODY;

EID: 84862173677     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/dds197     Document Type: Article

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