X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX): New mutations in the connexin32 gene

Human Genetics

Volumn 98, Issue 2, 1996, Pages 172-175

  Ressot, Catherine ^a   Latour, Philippe ^b   Blanquet Grossard, Françoise ^a   Sturtz, Franck ^b   Duthel, Sylvie ^b   Battin, Jacques ^e   Corbillon, Emmanuel ^c   Ollagnun, Elizabeth ^d   Serville, Françoise ^e   Vandenberghe, Antoon ^b   Dautigny, André ^a   Pham Dinh, Danielle ^a  

^a CNRS   (France)

^b UNIVERSITÉ LYON 1   (France)

^c AMIENS UNIVERSITY HOSPITAL   (France)

^d HÔTEL DIEU   (France)

^e HÔPITAL PELLEGRIN   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; GAP JUNCTION PROTEIN; GLYCINE; PROLINE; TRYPTOPHAN;

AMINO ACID SUBSTITUTION; ARTICLE; CHROMOSOME XQ; CLINICAL ARTICLE; CODING; CODON; CONTROLLED STUDY; FEMALE; GENE MAPPING; GENE MUTATION; GENE SEGREGATION; GENETIC SCREENING; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE DETECTION; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; NONSENSE MUTATION; PRIORITY JOURNAL; STRUCTURE ACTIVITY RELATION; X CHROMOSOME LINKAGE;

AMINO ACID SEQUENCE; BASE SEQUENCE; CHARCOT-MARIE-TOOTH DISEASE; CODON; CODON, NONSENSE; CONNEXINS; DNA; FEMALE; GENES, DOMINANT; HUMANS; LINKAGE (GENETICS); MALE; MUTATION; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; X CHROMOSOME;

EID: 8944253782     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050183     Document Type: Article

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