A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy

Acta Paediatrica, International Journal of Paediatrics

Volumn 98, Issue 5, 2009, Pages 865-872

  Arkblad, Eva ^a,c   Tulinius, Már ^b   Kroksmark, Anna Karin ^b   Henricsson, Mirja ^a   Darin, Niklas ^b  

^a SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

^b QUEEN SILVIA CHILDREN'S HOSPITAL   (Sweden)

^c NONE   (Sweden)

Author keywords

Genotype; MLPA; Phenotype; SMA; SMN1

Indexed keywords

GENERAL TRANSCRIPTION FACTOR; NEURONAL APOPTOSIS INHIBITORY PROTEIN; SURVIVAL MOTOR NEURON PROTEIN 1; SURVIVAL MOTOR NEURON PROTEIN 2; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR GTF2H2; TRANSCRIPTION FACTOR SERF1A; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; CHILD; CHROMOSOME 5Q; CLINICAL ARTICLE; DISEASE SEVERITY; FEMALE; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INFANT; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SPINAL MUSCULAR ATROPHY;

ADOLESCENT; ALLELES; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 5; FEMALE; GENOTYPE; HETEROZYGOTE; HUMANS; INCIDENCE; INFANT; MALE; PHENOTYPE; PREVALENCE; SMN COMPLEX PROTEINS; SPINAL MUSCULAR ATROPHIES OF CHILDHOOD; SWEDEN;

EID: 64149093241     PISSN: 08035253     EISSN: 16512227     Source Type: Journal    
DOI: 10.1111/j.1651-2227.2008.01201.x     Document Type: Article

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