Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype

Human Molecular Genetics

Volumn 5, Issue 2, 1996, Pages 257-263

  Velasco, Eladio ^a   Valero, Carmen ^a   Valero, Ana ^a   Moreno, Felipe ^a   Hernández Chico, Concepción ^a  

^a HOSPITAL RAMÓN Y CAJAL   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; PROTEIN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CENTROMERE; CHROMOSOME 5Q; CONTROLLED STUDY; DNA POLYMORPHISM; DNA SEQUENCE; EXON; GENE CONVERSION; GENE DELETION; GENE DUPLICATION; GENE NUMBER; GENE REARRANGEMENT; GENETIC VARIABILITY; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; PHENOTYPE; PRIORITY JOURNAL; SPAIN; SPINAL MUSCULAR ATROPHY; TELOMERE;

BASE SEQUENCE; CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; DNA PRIMERS; EXONS; FEMALE; GENE DOSAGE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUSCULAR ATROPHY, SPINAL; NERVE TISSUE PROTEINS; NEURONAL APOPTOSIS-INHIBITORY PROTEIN; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RNA-BINDING PROTEINS; SEQUENCE HOMOLOGY, NUCLEIC ACID; SPAIN; VARIATION (GENETICS);

EID: 0030047445     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.2.257     Document Type: Article

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