Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2

Nature Genetics

Volumn 25, Issue 1, 2000, Pages 17-19

  Bolino, Alessandra ^a   Muglia, Maria ^b   Conforti, Francesca Luisa ^b   LeGuern, Eric ^c   Salih, Mustafa A M ^d   Georgiou, Domna Maria ^e   Christodoulou, Kyproula ^e   Hausmanowa Petrusewicz, Irena ^f   Mandich, Paola ^g   Schenone, Angelo ^h   Gambardella, Antonio ⁱ   Bono, Franco ⁱ   Quattrone, Aldo ^b,i   Devoto, Marcella ^h   Monaco, Anthony P ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b CNR   (Italy)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^d KING SAUD UNIVERSITY   (Saudi Arabia)

^e CYPRUS INSTITUTE OF NEUROLOGY AND GENETICS   (Cyprus)

^f MOSSAKOWSKI MEDICAL RESEARCH CENTRE   (Poland)

^g UNIVERSITY OF GENOA   (Italy)

^h UNIVERSITY OF GENOA   (Italy)

ⁱ UNIVERSITY MAGNA GRAECIA OF CATANZARO   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; PROTEIN TYROSINE PHOSPHATASE; RNA;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; DEMYELINATING DISEASE; GENE MAPPING; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; NEUROPATHY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ALTERNATIVE SPLICING; CHARCOT-MARIE-TOOTH DISEASE; CHROMOSOMES, HUMAN, PAIR 11; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; HUMANS; MUTATION; PROTEIN-TYROSINE-PHOSPHATASE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 0034062698     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/75542     Document Type: Article

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