Genotype/phenotype correlation in affected individuals of a family with a deletion of the entire coding sequence of the connexin 32 gene

Human Genetics

Volumn 103, Issue 2, 1998, Pages 242-244

  Ainsworth, P J ^a,b   Bolton, C F ^b   Murphy, B C ^a   Stuart, J A ^a   Hahn, A F ^b  

^a Victoria Hospital Campus   (Canada)

^b UNIVERSITY OF WESTERN ONTARIO   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 32;

AGED; ARTICLE; CASE REPORT; CLINICAL FEATURE; FRAMESHIFT MUTATION; GENE AMPLIFICATION; GENE DELETION; GENOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE; HUMAN; MALE; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL;

AGED; CHARCOT-MARIE-TOOTH DISEASE; CONNEXINS; GENE DELETION; GENOTYPE; HUMANS; KARYOTYPING; MALE; PEDIGREE; PHENOTYPE; POLYMORPHISM, GENETIC;

EID: 0031719065     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050812     Document Type: Article

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