Genetic carrier screening for spinal muscular atrophy and spinal muscular atrophy with respiratory distress 1 in an isolated population in Israel

Genetic Testing

Volumn 12, Issue 1, 2008, Pages 53-56

  Basel Vanagaite, Lina ^a,b,c   Taub, Ellen ^a   Drasinover, Valerie ^c   Magal, Nurit ^c   Brudner, Alona ^c   Zlotogora, Joel ^d   Shohat, Mordechai ^a,b,c  

^a SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

^c RABIN MEDICAL CENTER   (Israel)

^d HEBREW UNIVERSITY   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

SURVIVAL MOTOR NEURON PROTEIN;

ARTICLE; CONTROLLED STUDY; FEMALE; GENE; GENE MUTATION; GENETIC SCREENING; HETEROZYGOTE DETECTION; HUMAN; IGHMBP2 GENE; ISRAEL; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; RESPIRATORY DISTRESS; SPINAL MUSCULAR ATROPHY;

ARABS; BASE SEQUENCE; CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; DNA-BINDING PROTEINS; FEMALE; GENES, RECESSIVE; GENETIC SCREENING; GENETICS, POPULATION; HETEROZYGOTE DETECTION; HUMANS; ISRAEL; MALE; MUSCULAR ATROPHY, SPINAL; MUTATION; NERVE TISSUE PROTEINS; PREGNANCY; PRENATAL DIAGNOSIS; RNA-BINDING PROTEINS; TRANSCRIPTION FACTORS;

EID: 41449089224     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.2007.0030     Document Type: Article

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