Molecular prenatal diagnosis of autosomal recessive childhood spinal muscular atrophies (SMAs)

Gene

Volumn 509, Issue 1, 2012, Pages 120-123

  Essawi, Mona L ^a   Al Attribi, Ghada M ^a   Gaber, Khaled R ^a   El Harouni, Ashraf A ^a,b,c  

^a NATIONAL RESEARCH CENTRE   (Egypt)

^b Aziz University   (Saudi Arabia)

^c KING ABDULAZIZ UNIVERSITY   (Saudi Arabia)

Author keywords

Mutation detection; NAIP gene; SMA; SMN1 gene

Indexed keywords

AGAR GEL ELECTROPHORESIS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DISEASE SEVERITY; EXON; FETUS; GENE; GENE DELETION; GENETIC COUNSELING; GENETIC RISK; HOMOZYGOSITY; HUMAN; MOLECULAR DYNAMICS; NEURONAL APOPTOSIS INHIBITORY PROTEIN GENE; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SPINAL MUSCULAR ATROPHY; SURVIVAL MOTOR NEURON GENE;

BASE SEQUENCE; DNA PRIMERS; EGYPT; EXONS; FEMALE; GENES, RECESSIVE; GENETIC COUNSELING; HOMOZYGOTE; HUMANS; MALE; NEURONAL APOPTOSIS-INHIBITORY PROTEIN; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PREGNANCY; PRENATAL DIAGNOSIS; SEQUENCE DELETION; SPINAL MUSCULAR ATROPHIES OF CHILDHOOD; SURVIVAL OF MOTOR NEURON 1 PROTEIN;

EID: 84866174590     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.07.085     Document Type: Article

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