Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1

Molecular Vision

Volumn 16, Issue , 2010, Pages 682-688

  Yasmeen, Afshan ^a   Amer Riazuddin, S ^a   Kaul, Haiba ^a   Mohsin, Sadia ^a   Khan, Mohsin ^a   Qazi, Zaheeruddin A ^b   Nasir, Idrees A ^a   Zafar, Ahmad U ^a   Khan, Shaheen N ^a   Husnain, Tayyab ^a   Akram, Javed ^c   Hejtmancik, J Fielding ^d   Riazuddin, Sheikh ^a,c  

^a UNIVERSITY OF THE PUNJAB   (Pakistan)

^b Layton Rahmatulla Benevolent Trust Hospital   (Pakistan)

^c UNIVERSITY OF HEALTH SCIENCES   (Pakistan)

^d NATIONAL EYE INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GALACTOKINASE; GALACTOKINASE 1; GENOMIC DNA; LEUCINE; PROLINE; UNCLASSIFIED DRUG; GALK1 PROTEIN, HUMAN;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOOD SAMPLING; CHILD; CHROMOSOME 17Q; CONGENITAL CATARACT; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; DNA EXTRACTION; EXON; EYE EXAMINATION; FAMILY STUDY; FRAMESHIFT MUTATION; GENE DELETION; GENE IDENTIFICATION; GENE LOCATION; GENE SEQUENCE; GENE STRUCTURE; GENETIC ALGORITHM; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MEDICAL RECORD REVIEW; MICROSATELLITE MARKER; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PAKISTAN; PATHOGENESIS; PRIORITY JOURNAL; AMINO ACID SEQUENCE; CATARACT; CHEMISTRY; CONSANGUINITY; ENZYMOLOGY; FAMILY; FEMALE; GENETIC LINKAGE; GENETIC PREDISPOSITION; GENETICS; MALE; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; RECESSIVE GENE; SEQUENCE ALIGNMENT;

AMINO ACID SEQUENCE; BASE SEQUENCE; CATARACT; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; GALACTOKINASE; GENES, RECESSIVE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LOD SCORE; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PAKISTAN; PEDIGREE; SEQUENCE ALIGNMENT;

EID: 77952307766     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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