A novel point mutation in the peripheral myelin protein 22 (PMP22) gene associated with Charcot-Marie-Tooth disease type 1A

Neurology

Volumn 48, Issue 2, 1997, Pages 489-493

  Marrosu, Maria Giovanna ^a   Vaccargiu, S ^b   Marrosu, G ^b   Vannelli, A ^b   Cianchetti, C ^b   Muntoni, F ^b  

^a Azienda Ospedaliero Universitaria   (Italy)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; GLYCINE; GUANINE; MYELIN PROTEIN; THYMIDINE; VALINE;

AMINO ACID SUBSTITUTION; ARTICLE; CHROMOSOME 17; CLINICAL ARTICLE; FEMALE; GENETIC LINKAGE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; PEDIGREE ANALYSIS; POINT MUTATION; PRIORITY JOURNAL;

EID: 0031038386     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.48.2.489     Document Type: Article

References (31)

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