ADIPOR1 Is Mutated in Syndromic Retinitis Pigmentosa

Human Mutation

Volumn 37, Issue 3, 2016, Pages 246-249

  Xu, Mingchu ^a   Eblimit, Aiden ^a   Wang, Jing ^a   Li, Jianli ^a   Wang, Feng ^a   Zhao, Li ^a   Wang, Xia ^a   Xiao, Ningna ^a   Li, Yumei ^a   Wong, Lee Jun C ^a   Lewis, Richard A ^a,b   Chen, Rui ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b CULLEN EYE INSTITUTE   (United States)

Author keywords

ADIPOR1; Fatty acid; Next generation sequencing; Obesity; Retina

Indexed keywords

ADIPOR1 GENE; ADULT; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BEHAVIOR DISORDER; BIOMICROSCOPY; CASE REPORT; CATARACT; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; EXOME; FRAMESHIFT MUTATION; GENE; GENE SEQUENCE; GENOME ANALYSIS; HOMOZYGOSITY; HOMOZYGOTE; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INTELLECTUAL IMPAIRMENT; MALE; MOUSE; MUTATIONAL ANALYSIS; NONHUMAN; OBESITY; OPTIC NERVE DISEASE; PHENOTYPE; PRIORITY JOURNAL; REFRACTION ERROR; RETINA DYSTROPHY; RETINITIS PIGMENTOSA; SPEECH DELAY; VISUAL ACUITY; WHOLE EXOME SEQUENCING; ANIMAL; FEMALE; GENETICS; MUTATION; YOUNG ADULT;

ADIPONECTIN RECEPTOR; ADIPOR1 PROTEIN, HUMAN;

ADULT; ANIMALS; EXOME; FEMALE; FRAMESHIFT MUTATION; HUMANS; MALE; MICE; MUTATION; RECEPTORS, ADIPONECTIN; RETINITIS PIGMENTOSA; YOUNG ADULT;

EID: 84957948601     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22940     Document Type: Article

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