A new point mutation affecting the fourth transmembrane domain of PMP22 results in severe, de novo Charcot-Marie-Tooth disease

Human Genetics

Volumn 97, Issue 5, 1996, Pages 685-687

  Navon, Ruth ^a,b   Seifried, Beth ^a,b   Shoham Gal On, Nitza ^a,b   Sadeh, Menachem ^c  

^a TEL AVIV UNIVERSITY   (Israel)

^b MEIR MEDICAL CENTER   (Israel)

^c SHEBA MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

MEMBRANE PROTEIN; MYELIN PROTEIN;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE; HUMAN; POINT MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN; SCHOOL CHILD;

EID: 0030012076     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02281883     Document Type: Article

References (20)

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