Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus

Human Mutation

Volumn 33, Issue 6, 2012, Pages 960-962

  Aldahmesh, Mohammed A ^a   Khan, Arif O ^a,b   Mohamed, Jawahir Y ^a   Alghamdi, Mohammed H ^c   Alkuraya, Fowzan S ^a,c,d  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b KING KHALED EYE SPECIALIST HOSPITAL   (Saudi Arabia)

^c KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

^d ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

Agk; Autosomal recessive cataract; Autozygosity; Exome; Lenticular lipids

Indexed keywords

ACYLGLYCEROL KINASE; PHOSPHOTRANSFERASE; UNCLASSIFIED DRUG;

ADOLESCENT; ALTERNATIVE RNA SPLICING; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CATARACTOGENESIS; CHILD; CHROMOSOME 7Q; CLINICAL ARTICLE; CONGENITAL CATARACT; CONSANGUINITY; EXOME; FEMALE; GENE MUTATION; GENETIC LINKAGE; HUMAN; LIPID METABOLISM; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSLATION INITIATION;

ADOLESCENT; BASE SEQUENCE; CATARACT; CHILD; CHROMOSOMES, HUMAN, PAIR 7; CONSANGUINITY; EXONS; FEMALE; GENES, RECESSIVE; GENOTYPE; HUMANS; LOD SCORE; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); RNA SPLICE SITES;

EID: 84865166506     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22071     Document Type: Article

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