Genetic study of SMA patients without homozygous SMN1 deletions: Identification of compound heterozygotes and characterisation of novel intragenic SMN1 mutations

Human Genetics

Volumn 110, Issue 3, 2002, Pages 257-263

  Martín, Yolanda ^a   Valero, Ana ^a   Del Castillo, Emilia ^b   Pascual, Samuel I ^c   Hernández Chico, Concepción ^a  

^a HOSPITAL RAMÓN Y CAJAL   (Spain)

^b HOSPITAL MATERNO INFANTIL   (Spain)

^c HOSPITAL INFANTIL LA PAZ   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; BINDING SITE; CLINICAL ARTICLE; ETHNIC GROUP; EXON; FAMILY; FLUORESCENCE; FRAMESHIFT MUTATION; GENE DELETION; GENE DOSAGE; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC TRANSCRIPTION; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; INTRON; MOTOR NERVE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; SPAIN; SPINAL MUSCULAR ATROPHY; TELOMERE;

ALLELES; BASE SEQUENCE; CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; DNA; DNA MUTATIONAL ANALYSIS; GENE DELETION; GENE DOSAGE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MUSCULAR ATROPHY, SPINAL; MUTATION; NERVE TISSUE PROTEINS; POLYMERASE CHAIN REACTION; PROMOTER REGIONS (GENETICS); RNA-BINDING PROTEINS; SPAIN;

EID: 0036523944     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-002-0681-y     Document Type: Article

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