Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa

American Journal of Human Genetics

Volumn 87, Issue 5, 2010, Pages 643-654

  Rajadhyaksha, Anjali M ^a,b   Elemento, Olivier ^c   Puffenberger, Erik G ^d   Schierberl, Kathryn C ^a,b   Xiang, Jenny Z ^c   Putorti, Maria L ^e   Berciano, José ^f   Poulin, Chantal ^g   Brais, Bernard ^e   Michaelides, Michel ^h,i,j   Weleber, Richard G ^h   Higgins, Joseph J ^a  

^a NEW YORK PRESBYTERIAN HOSPITAL   (United States)

^b Weill Cornell Graduate School of Biomedical Sciences   (United States)

^c WEILL CORNELL MEDICAL COLLEGE   (United States)

^d CLINIC FOR SPECIAL CHILDREN   (United States)

^e CENTRE HOSPITALIER DE L UNIVERSITÉ DE MONTRÉAL   (Canada)

^f HOSPITAL UNIVERSITARIO MARQUÉS DE VALDECILLA   (Spain)

^g MONTREAL CHILDREN S HOSPITAL   (Canada)

^h OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

ⁱ UNIVERSITY COLLEGE LONDON   (United Kingdom)

^j MOORFIELDS EYE HOSPITAL   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

HEME; IRON; MESSENGER RNA;

ADOLESCENT; ADULT; ANIMAL TISSUE; ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 1Q; CORRELATION ANALYSIS; FEMALE; FLVCR 1 GENE; GENE; GENE EXPRESSION; GENE LOCATION; GENE SEQUENCE; HOMEOSTASIS; HOMOZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; MOUSE; NERVE CELL; NONHUMAN; NUCLEOTIDE SEQUENCE; PEDIGREE; POSTERIOR COLUMN ATAXIA AND RETINITIS PIGMENTOSA; PRIORITY JOURNAL; PROPRIOCEPTION; RETINA; RETINITIS PIGMENTOSA; SEQUENCE ANALYSIS; SPINAL CORD; SPINAL CORD DORSAL HORN; VISION;

ADOLESCENT; ADULT; ATAXIA; CHILD; FEMALE; HUMANS; INFANT; MALE; MEMBRANE TRANSPORT PROTEINS; MIDDLE AGED; MUTATION; NEURODEGENERATIVE DISEASES; PEDIGREE; RECEPTORS, VIRUS; RETINITIS PIGMENTOSA; SPINAL CORD; SYNDROME;

FELINE LEUKEMIA VIRUS; SUBGROUP C;

EID: 78249240545     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.10.013     Document Type: Article

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