ALMS1 null mutations: A common cause of Leber congenital amaurosis and early-onset severe cone-rod dystrophy

Clinical Genetics

Volumn 89, Issue 4, 2016, Pages 442-447

  Xu, Y ^a   Guan, L ^b   Xiao, X ^a   Zhang, J ^b   Li, S ^a   Jiang, H ^b   Jia, X ^a   Yin, Y ^b   Guo, X ^a   Wang, J ^b   Zhang, Q ^a  

^a SUN YAT SEN UNIVERSITY   (China)

^b BGI SHENZHEN   (China)

Author keywords

Alstr m syndrome; Cone rod dystrophy; Leber congenital amaurosis; Null mutations; Sanger sequencing; Whole exome sequencing

Indexed keywords

ALMS1 PROTEIN; PEPTIDES AND PROTEINS; UNCLASSIFIED DRUG;

ALSTROM SYNDROME; ARTICLE; CHILD; CLINICAL ARTICLE; CONE ROD DYSTROPHY; DISEASE SEVERITY; EXOME; FEMALE; FOLLOW UP; FRAMESHIFT MUTATION; GENE FREQUENCY; GENETIC HETEROGENEITY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LEBER CONGENITAL AMAUROSIS; MALE; NONSENSE MUTATION; PHENOTYPE; PHOTOPHOBIA; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA DYSTROPHY; SCHOOL CHILD;

EID: 84932081753     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12617     Document Type: Article

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