Prenatal prediction of childhood-onset spinal muscular atrophy (SMA) in Turkish families

Prenatal Diagnosis

Volumn 22, Issue 8, 2002, Pages 703-709

  Savas, S ^a,f   Eraslan, S ^b   Kantarci, S ^b   Karaman, B ^c   Acarsoz, D ^c   Tukel T ^c   Cogulu, O ^d   Ozkinay, F ^d   Basaran, S ^c   Aydinonlino, K ^e   Yuksel Apak, M ^c   Kirdar, B ^a  

^a BOGAZICI UNIVERSITY   (Turkey)

^b Duzen Laboratories   (Turkey)

^c ISTANBUL UNIVERSITY   (Turkey)

^d EGE UNIVERSITY   (Turkey)

^e ISTANBUL UNIVERSITY   (Turkey)

^f MOUNT SINAI HOSPITAL   (Canada)

Author keywords

Gene deletion; Hybrid SMN genes; Prenatal prediction; SMA; Turkish families

Indexed keywords

APOPTOSIS; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHILD; CHILDHOOD DISEASE; DISEASE SEVERITY; FEMALE; FETUS; GENE DELETION; HUMAN; MAJOR CLINICAL STUDY; MALE; MULTIGENE FAMILY; POINT MUTATION; PREDICTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SPINAL MUSCULAR ATROPHY; TURKEY (REPUBLIC); EXON; GENETICS; GENOTYPE; HEREDITARY SPINAL MUSCULAR ATROPHY; HOMOZYGOTE; PHENOTYPE; PREGNANCY;

DNA RESTRICTION ENZYMES; EXONS; FEMALE; GENE DELETION; GENOTYPE; HOMOZYGOTE; HUMAN; NERVE TISSUE PROTEINS; PHENOTYPE; PREGNANCY; PRENATAL DIAGNOSIS; SPINAL MUSCULAR ATROPHIES OF CHILDHOOD; SUPPORT, NON-U.S. GOV'T; TURKEY; CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; HUMANS; NEURONAL APOPTOSIS-INHIBITORY PROTEIN; RNA-BINDING PROTEINS;

BIRC1 PROTEIN, HUMAN; CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN; NERVE PROTEIN; NEURONAL APOPTOSIS INHIBITORY PROTEIN; RESTRICTION ENDONUCLEASE; RNA BINDING PROTEIN; SMN PROTEIN (SPINAL MUSCULAR ATROPHY);

EID: 18444384786     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.384     Document Type: Article

References (40)

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