A novel HSF4 gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan

BMC Medical Genetics

Volumn 9, Issue , 2008, Pages

  Sajjad, Naheed ^a   Goebel, Ingrid ^b   Kakar, Naseebullah ^a   Cheema, Abdul Majeed ^a   Kubisch, Christian ^b   Ahmad, Jamil ^a  

^a BALOCHISTAN UNIVERSITY OF INFORMATION TECHNOLOGY   (Pakistan)

^b UNIVERSITY OF COLOGNE   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOSINE; HEAT SHOCK TRANSCRIPTION FACTOR 4; THYMIDINE; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG; DNA BINDING PROTEIN; HSF4 PROTEIN, HUMAN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CONGENITAL CATARACT; CONSANGUINITY; CONTROLLED STUDY; DNA FLANKING REGION; EXON; FAMILY STUDY; GENE IDENTIFICATION; GENE LOCUS; GENE SEQUENCE; GENETIC LINKAGE; HUMAN; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PAKISTAN; PHENOTYPE; RESTRICTION MAPPING; RNA SPLICING; SCORING SYSTEM; AFGHANISTAN; CATARACT; ETHNOLOGY; FEMALE; GENETICS; MALE; PEDIGREE; POLYMERASE CHAIN REACTION; RECESSIVE GENE; STOP CODON;

AFGHANISTAN; CATARACT; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; EXONS; FEMALE; GENES, RECESSIVE; HUMANS; LOD SCORE; MALE; PAKISTAN; PEDIGREE; POLYMERASE CHAIN REACTION; TRANSCRIPTION FACTORS;

EID: 57449104157     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-9-99     Document Type: Article

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