SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract

European Journal of Human Genetics

Volumn 23, Issue 12, 2015, Pages 1627-1633

  Evers, Christina ^a   Paramasivam, Nagarajan ^b   Hinderhofer, Katrin ^a   Fischer, Christine ^a   Granzow, Martin ^a   Schmidt Bacher, Annette ^c   Eils, Roland ^a,b   Steinbeisser, Herbert ^a   Schlesner, Matthias ^b   Moog, Ute ^a  

^a UNIVERSITY OF HEIDELBERG   (Germany)

^b GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^c Klin Diagn/Interventionelle R   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GUANOSINE TRIPHOSPHATASE ACTIVATING PROTEIN; SIGNAL-INDUCED PROLIFERATION-ASSOCIATED 1-LIKE PROTEIN 3, HUMAN; STOP CODON;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CATARACT EXTRACTION; CHILD; CHROMOSOME 19P; CONGENITAL CATARACT; CONSANGUINITY; CONTACT LENS; EXOME; EXON; FAMILY HISTORY; FEMALE; GENE; GENE FREQUENCY; GENE LOCUS; GENE MAPPING; GENE SEQUENCE; GENETIC LINKAGE; GENOME ANALYSIS; GENOTYPE; GERMANIC PEOPLE; HAPLOTYPE; HETEROZYGOSITY; HETEROZYGOTE; HOMOZYGOSITY; HOMOZYGOTE; HUMAN; LINKAGE ANALYSIS; MOLECULAR PATHOLOGY; NONSENSE MEDIATED MRNA DECAY; NONSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SIGNAL INDUCED PROLIFERATION ASSOCIATED 1 LIKE 3 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; STOP CODON; WHOLE EXOME SEQUENCING; CATARACT; CHROMOSOME 19; GENETICS; PEDIGREE;

CATARACT; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 19; CODON, NONSENSE; EXOME; FEMALE; GENETIC LINKAGE; GTPASE-ACTIVATING PROTEINS; HOMOZYGOTE; HUMANS; PEDIGREE;

EID: 84948720237     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2015.46     Document Type: Article

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