Mutation profile of the most common genetic disorders in Bulgaria

Balkan Journal of Medical Genetics

Volumn 3, Issue 4, 2000, Pages 3-12

  Kremensky, I ^a   Jordanova, A ^a   Todorova, A ^a   Savov, A ^a   Iankova, S ^a   Georgieva, B ^a   Zaharova, B ^a   Kaneva, R ^a   Petkova, R ^a   Andonova, S ^a   Ivanova, M ^a   Michaylova, E ^a   Ivanova, N ^a   Kalaydjieva, L ^a  

^a University Hospital of Obstetrics and Gynecology 'Maichin Dom' Bulgaria   (Bulgaria)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; DYSTROPHIN; GALACTOKINASE; PROTEIN KINASE; TRANSFERASE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BECKER MUSCULAR DYSTROPHY; BETA THALASSEMIA; BULGARIA; CONTROLLED STUDY; CYSTIC FIBROSIS; DUCHENNE MUSCULAR DYSTROPHY; ETHNIC GROUP; EXON; GENE DELETION; GENE ISOLATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC HETEROGENEITY; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE DETECTION; HIGH RISK POPULATION; HOMOZYGOSITY; HUMAN; HUMAN CELL; HYBRID GENE; LIMB GIRDLE MUSCULAR DYSTROPHY; MASS SCREENING; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; METABOLIC DISORDER; NEWBORN SCREENING; PHENYLKETONURIA; PILOT STUDY; SPINAL MUSCULAR ATROPHY; TELOMERE; WILSON DISEASE;

EID: 0034458279     PISSN: 13110160     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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