New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11

Human Molecular Genetics

Volumn 23, Issue 21, 2014, Pages 5774-5780

  Xie, Yajing ^a   Lee, Winston ^a   Cai, Carolyn ^a   Gambin, Tomasz ^c   Nõupuu, Kalev ^a   Sujirakul, Tharikarn ^a   Ayuso, Carmen ^e,f   Jhangiani, Shalini ^c   Muzny, Donna ^d   Boerwinkle, Eric ^c   Gibbs, Richard ^c,d   Greenstein, Vivienne C ^a   Lupski, James R ^c,d   Tsang, Stephen H ^a,b   Allikmets, Rando ^a,b  

^a Columbia University ^*  (United States)

^b Department of Medicine   (United States)

^c Baylor College of Medicine ^*  (United States)

^d BAYLOR COLLEGE OF MEDICINE   (United States)

^e HOSPITAL UNIVERSITARIO FUNDACIÓN JIMÉNEZ DÍAZ   (Spain)

^f INSTITUTO DE SALUD CARLOS III   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

CADHERIN 23; RETINOIC ACID; RETINOL DEHYDROGENASE; RETINOL DEHYDROGENASE 11; UNCLASSIFIED DRUG; OXIDOREDUCTASE; RDH11 PROTEIN, HUMAN; STOP CODON;

ADOLESCENT; ADULT; ARTERIOLE; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHILD; DNA SEQUENCE; ELECTRORETINOGRAM; EXOME; FACE DYSMORPHIA; FEMALE; HETEROZYGOSITY; HUMAN; INHERITANCE; LEARNING DISORDER; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NULL ALLELE; PHENOTYPE; PIGMENT EPITHELIUM; PSYCHOMOTOR DISORDER; RETINITIS PIGMENTOSA; SCHOOL CHILD; SHORT STATURE; SIBLING; VISUAL ACUITY; VISUAL FIELD; YOUNG ADULT; GENETICS; PEDIGREE; STOP CODON; SYNDROME; VISION TEST;

ADOLESCENT; CHILD; CODON, NONSENSE; FEMALE; HUMANS; MALE; OXIDOREDUCTASES; PEDIGREE; PHENOTYPE; RETINITIS PIGMENTOSA; SYNDROME; VISION TESTS; VISUAL ACUITY; YOUNG ADULT;

EID: 84911382379     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddu291     Document Type: Article

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