Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies

Human Genetics

Volumn 99, Issue 6, 1997, Pages 746-754

  Bort, Sylvia ^a   Nelis, Eva ^b   Timmerman, Vincent ^b   Sevilla, Teresa ^a   Cruz Martínez, Antonio ^c   Martínez, Francisco ^a   Millán, José M ^a   Arpa, Javier ^d   Vílchez, Juan J ^a   Prieto, Felix ^a   Van Broeckhoven, Christine ^b   Palau, Francesc ^a  

^a HOSPITAL UNIVERSITARIO LA FE   (Spain)

^b DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^c Hospital La Luz   (Spain)

^d HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

GAP JUNCTION PROTEIN; MESSENGER RNA; MYELIN PROTEIN;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 17P; CONTROLLED STUDY; ETHNIC GROUP; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENETIC HETEROGENEITY; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN CELL; LEUKOCYTE; MAJOR CLINICAL STUDY; NUCLEIC ACID BASE SUBSTITUTION; PARALYSIS; PERIPHERAL NEUROPATHY; POINT MUTATION; PRIORITY JOURNAL; RNA ANALYSIS; RNA SPLICING; SPAIN;

CHARCOT-MARIE-TOOTH DISEASE; CONNEXINS; DNA MUTATIONAL ANALYSIS; FEMALE; GENE DELETION; HUMANS; MALE; MODELS, MOLECULAR; MUTATION; MYELIN P0 PROTEIN; MYELIN PROTEINS; PEDIGREE; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 0030919434     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050442     Document Type: Article

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