Absence of PMP22 coding region mutations in CMT1A duplication patients: Further evidence supporting gene dosage as a mechanism for Charcot-Marie- Tooth disease type 1A

Human Mutation

Volumn 8, Issue 4, 1996, Pages 362-365

  Warner, Laura E ^a   Roa, Benjamin B ^a   Lupski, James R ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 17P; GENE DOSAGE; GENE DUPLICATION; GENE LOCUS; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; PEDIGREE; PRIORITY JOURNAL;

CHARCOT-MARIE-TOOTH DISEASE; FEMALE; GENE DOSAGE; HUMANS; MALE; MUTATION; MYELIN PROTEINS; PEDIGREE;

EID: 0029848695     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)8:4<362::AID-HUMU10>3.0.CO;2-0     Document Type: Article

References (24)

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