Homozygous mutations in ARIX (PHOX2A) result in congenital fibrosis of the extraocular muscles type 2

Nature Genetics

Volumn 29, Issue 3, 2001, Pages 315-320

  Nakano, Motoi ^a   Yamada, Koki ^a   Fain, Jennifer ^a   Sener, Emin C ^b   Selleck, Carol J ^c   Awad, Abdulaziz H ^c   Zwaan, Johan ^d   Mullaney, Paul B ^c   Bosley, Thomas M ^c   Engle, Elizabeth C ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b HACETTEPE UNIVERSITY   (Turkey)

^c KING KHALED EYE SPECIALIST HOSPITAL   (Saudi Arabia)

^d UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER AT SAN ANTONIO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PROTEIN ARIX; PROTEIN PHOX2A; UNCLASSIFIED DRUG;

ABDUCENS NERVE; AMINO ACID SEQUENCE; ARTICLE; CLINICAL FEATURE; CONGENITAL FIBROSIS SYNDROME; CRANIAL NERVE; DUANE RETRACTION SYNDROME; EXTRAOCULAR MUSCLE; GENE MAPPING; GENE MUTATION; GENETIC CODE; HOMOZYGOSITY; HUMAN; INHERITANCE; MOTONEURON NUCLEUS; NEUROPATHOLOGY; NUCLEOTIDE SEQUENCE; OCULOMOTOR NERVE; OPHTHALMOPLEGIA; PEDIGREE; PRIORITY JOURNAL; PROTEIN DOMAIN; RNA SPLICING; STRABISMUS;

AMINO ACID SEQUENCE; BASE SEQUENCE; CONTIG MAPPING; DNA MUTATIONAL ANALYSIS; DUANE RETRACTION SYNDROME; EYE ABNORMALITIES; FEMALE; HAPLOTYPES; HOMEODOMAIN PROTEINS; HOMOZYGOTE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE; PHENOTYPE; POLYMORPHISM, GENETIC; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SEQUENCE ALIGNMENT; STRABISMUS; TRANSCRIPTION FACTORS;

EID: 0035179560     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng744     Document Type: Article

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