Founder heterozygous P23T CRYGD mutation associated with cerulean (and coralliform) cataract in 2 Saudi families

Molecular Vision

Volumn 15, Issue , 2009, Pages 1407-1411

  Khan, Arif O ^a,b   Aldahmesh, Mohammed A ^a   Ghadhfan, Faisal E ^b   Al Mesfer, Saleh ^b   Alkuraya, Fowzan S ^a,c  

^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)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; CYSTEINE; GAMMA CRYSTALLIN; GLYCINE; PROLINE; THREONINE;

ADULT; ARTICLE; CATARACT; CATARACT EXTRACTION; CERULEAN CATARACT; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CORALLIFORM CATARACT; EYE EXAMINATION; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HETEROZYGOSITY; HUMAN; MALE; PEDIGREE ANALYSIS; PHENOTYPIC VARIATION; PHOTOPHOBIA; PRESCHOOL CHILD; PRIORITY JOURNAL; PSEUDOPHAKIA; SAUDI ARABIA; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; VISUAL ACUITY;

AMINO ACID SUBSTITUTION; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CATARACT; CHILD; CHILD, PRESCHOOL; FAMILY; FEMALE; FOUNDER EFFECT; GAMMA-CRYSTALLINS; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HETEROZYGOTE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PROLINE; SAUDI ARABIA; THREONINE;

EID: 67651216106     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (20)

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