Map of autosomal recessive genetic disorders in Saudi Arabia: Concepts and future directions

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 10, 2012, Pages 2629-2640

  Al Owain, Mohammed ^a,b   Al Zaidan, Hamad ^a,b   Al Hassnan, Zuhair ^a,b  

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

^b ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

Allelic heterogeneity; Autosomal recessive disorders; Autozygosity; Consanguinity; Exome sequencing; Founder mutations; Prevention; Registry; Saudi Arabia; Tribe

Indexed keywords

AUTOSOMAL RECESSIVE DISORDER; CONSANGUINEOUS MARRIAGE; CULTURAL FACTOR; DISEASE REGISTRY; EXOME; FAMILY SIZE; FOUNDER EFFECT; GENE MAPPING; GENE MUTATION; GENETIC DATABASE; GENETIC HETEROGENEITY; HEALTH CARE ACCESS; HEALTH EDUCATION; HOMOZYGOSITY; HUMAN; MOLECULAR DIAGNOSIS; MUTATIONAL ANALYSIS; POPULATION GENETICS; PREVALENCE; PREVENTIVE MEDICINE; PRIORITY JOURNAL; PUBLIC HEALTH PROBLEM; REVIEW; SAUDI ARABIA; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SOCIAL ASPECT; STRATEGIC PLANNING;

CONSANGUINITY; FOUNDER EFFECT; GENES, RECESSIVE; GENETIC DISEASES, INBORN; GENETIC TESTING; HUMANS; PREVALENCE; SAUDI ARABIA;

EID: 84866497203     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35551     Document Type: Review

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