The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings

Clinical Genetics

Volumn 64, Issue 3, 2003, Pages 210-215

  Devon, R S ^a   Helm, J R ^a   Rouleau, G A ^b   Leitner, Y ^c   Lerman Sagie, T ^d   Lev, D ^d   Hayden, Michael R ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b MONTREAL GENERAL HOSPITAL   (Canada)

^c TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

^d WOLFSON MEDICAL CENTER   (Israel)

Author keywords

ALS2; Alsin; Amyotrophic lateral sclerosis; Hereditary spastic paraplegia; Mutation; Primary lateral sclerosis

Indexed keywords

ALSIN; AMINO ACID; DNA; GUANOSINE TRIPHOSPHATASE ACTIVATING PROTEIN; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BULBAR PARALYSIS; CASE REPORT; CELL FUNCTION; CHILD; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENETIC SCREENING; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN CELL; INFANT; MOTONEURON; MOTOR NEURON DISEASE; NERVE CELL DIFFERENTIATION; NONSENSE MUTATION; PATHOGENESIS; PHENOTYPE; PREDICTION; PRIMARY LATERAL SCLEROSIS; PRIORITY JOURNAL; SIBLING; SPASTIC PARESIS; STOP CODON;

AGE OF ONSET; CODON, NONSENSE; CONSANGUINITY; EXONS; FEMALE; HUMANS; INFANT; JEWS; MENTAL RETARDATION; PEDIGREE; PHENOTYPE; PROTEIN ISOFORMS; PROTEIN STRUCTURE, TERTIARY; PSEUDOBULBAR PALSY; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 0042914405     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2003.00138.x     Document Type: Article

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