An essential SMN interacting protein (SIP1) is not involved in the phenotypic variability of spinal muscular atrophy (SMA)

European Journal of Human Genetics

Volumn 8, Issue 7, 2000, Pages 493-499

  Helmken, C ^a   Wetter, A ^a   Rudnik Schoneborn S ^b   Liehr, T ^c   Zerres, K ^b   Wirth, B ^a  

^a UNIVERSITY HOSPITAL BONN   (Germany)

^b RWTH AACHEN UNIVERSITY   (Germany)

^c Institute of Human Genetics and Anthropology   (Germany)

Author keywords

Genomic structure; Molecular analysis; Mutation analysis; Neuromuscular disease; Physical location; SMN interacting protein 1 (SIP1); Spinal muscular atrophy (SMA); Survival motor neuron gene (SMN1)

Indexed keywords

DNA; PROTEIN; SURVIVAL MOTOR NEURON INTERACTING PROTEIN 1; UNCLASSIFIED DRUG;

ARTICLE; CHROMOSOMAL LOCALIZATION; CHROMOSOME 14Q; CLINICAL ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; DNA SEQUENCE; EXON; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MUTATION; GENE STRUCTURE; GENOTYPE; HUMAN; HUMAN CELL; INTRON; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SPINAL MUSCULAR ATROPHY;

ALTERNATIVE SPLICING; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 14; DNA; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; EXONS; GENETIC SCREENING; GENOTYPE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INTRONS; MOLECULAR SEQUENCE DATA; MOTOR NEURONS; MUTATION; NERVE TISSUE PROTEINS; PHENOTYPE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; RNA-BINDING PROTEINS; SPINAL MUSCULAR ATROPHIES OF CHILDHOOD;

EID: 0033922208     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200479     Document Type: Article

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