Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians

Neurology

Volumn 64, Issue 10, 2005, Pages 1762-1767

  Roddier, K ^a   Thomas, T ^a   Marleau, G ^a   Gagnon, A M ^a   Dicaire, M J ^a   St Denis, A ^a   Gosselin, I ^a   Sarrazin, A M ^b   Larbrisseau, A ^c   Lambert, M ^c   Vanasse, M ^c   Gaudet, D ^a   Rouleau, G A ^d   Brais, B ^a,e  

^a UNIVERSITÉ DE MONTRÉAL   (Canada)

^b CENTRE HOSPITALIER DE L UNIVERSITÉ DE MONTRÉAL   (Canada)

^c UNIVERSITY OF MONTREAL   (Canada)

^d MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^e NOTRE DAME HOSPITAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

HSN2 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CANADA; CHILD; CHROMOSOME 12P; CLINICAL ARTICLE; CLUSTER ANALYSIS; FAMILY; FEMALE; FOUNDER EFFECT; GENE; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 2; HETEROZYGOTE; HSAN1 GENE; HSAN2 GENE; HSAN3 GENE; HSN2 GENE; HUMAN; HUMAN CELL; INFANT; INHERITANCE; MALE; NEUROPATHY; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; RARE DISEASE; RECESSIVE INHERITANCE; SEQUENCE ANALYSIS; STATISTICAL SIGNIFICANCE;

EID: 21044450950     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000161849.29944.43     Document Type: Article

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