Charcot-Marie-Tooth disease and related neuropathies: Mutation distribution and genotype-phenotype correlation

Annals of Neurology

Volumn 51, Issue 2, 2002, Pages 190-201

  Boerkoel, Cornelius F ^a   Takashima, Hiroshi ^a   Garcia, Carlos A ^b   Olney, Richard K ^c   Johnson, John ^d   Berry, Katherine ^e   Russo, Paul ^f   Kennedy, Shelley ^g   Teebi, Ahmad S ^h   Scavina, Mena ⁱ   Williams, Lowell L ^j   Mancias, Pedro ^a   Butler, Ian J ^a   Krajewski, Karen ^b   Shy, Michael ^d   Lupski, James R ^a,h  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b TULANE UNIVERSITY HEALTH SCIENCES CENTER   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d Shodair Children's Hospital   (United States)

^e Kaukauna Clinic   (United States)

^f HOSPITAL FOR SICK CHILDREN   (Canada)

^g NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^h Health Science Center Medical School ^*  (United States)

ⁱ WAYNE STATE UNIVERSITY   (United States)

^j WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

AXIN; CONNEXIN 32; EARLY GROWTH RESPONSE FACTOR 1; EARLY GROWTH RESPONSE FACTOR 2; GENE PRODUCT; KINESIN; MYELIN PROTEIN; MYELIN PROTEIN ZERO; MYOTUBULARIN RELATED PROTEIN 2; N MYC DOWNSTREAM REGULATED GENE 1 PRODUCT; NEUROFILAMENT PROTEIN; ONCOPROTEIN; PERIAXIN; PERIPHERAL MYELIN PROTEIN 22; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; CHROMOSOME 17P; CHROMOSOME DUPLICATION; CLINICAL EXAMINATION; FEMALE; GENE MUTATION; GENETIC DISORDER; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HEARING IMPAIRMENT; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; PERIPHERAL NEUROPATHY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ANALYSIS;

ADOLESCENT; ADULT; CHARCOT-MARIE-TOOTH DISEASE; CHILD; COHORT STUDIES; CONNEXINS; DEAFNESS; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; DNA-BINDING PROTEINS; EARLY GROWTH RESPONSE PROTEIN 2; FAMILY HEALTH; FEMALE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MYELIN P0 PROTEIN; MYELIN PROTEINS; PEDIGREE; PHENOTYPE; POINT MUTATION; TRANSCRIPTION FACTORS;

EID: 0036157054     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.10089     Document Type: Article

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