Niemann-Pick C1 disease: The I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype

American Journal of Human Genetics

Volumn 65, Issue 5, 1999, Pages 1321-1329

  Millat, Gilles ^a   Marçais, Christophe ^b   Rafi, Mohammad A ^c   Yamamoto, Toshiyuki ^d   Morris, Jill A ^e   Pentchev, Peter G ^e   Ohno, Kousaku ^d   Wenger, David A ^c   Vanier, Marie T ^a,b  

^a INSERM   (France)

^b CENTRE HOSPITALIER LYON SUD   (France)

^c THOMAS JEFFERSON UNIVERSITY   (United States)

^d TOTTORI UNIVERSITY   (Japan)

^e NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CONTROLLED STUDY; GENE FREQUENCY; GENE MUTATION; HUMAN; INFANT; MAJOR CLINICAL STUDY; MUTATION RATE; NIEMANN PICK DISEASE; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 0033361755     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302626     Document Type: Article

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