Mutations in the MTM1 gene implicated in X-linked myotubular myopathy

Human Molecular Genetics

Volumn 6, Issue 9, 1997, Pages 1505-1511

  Laporte, Jocelyn ^a   Guiraud Chaumeil, Christophe ^a   Vincent, Marie Claire ^a   Mandel, Jean Louis ^a   Tanner, Stephan M ^b   Liechti Gallati, Sabina ^b   Wallgren Pettersson, Carina ^c,d   Dahl, Niklas ^e   Kress, Wolfram ^f   Bolhuis, Pieter A ^g   Fardeau, Michel ^h   Samson, Françoise ⁱ   Bertini, Enrico ^j  

^a INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^b UNIVERSITY OF BERN   (Switzerland)

^c UNIVERSITY OF HELSINKI   (Finland)

^d FOLKHÄLSAN RESEARCH CENTER   (Finland)

^e UPPSALA UNIVERSITY HOSPITAL   (Sweden)

^f UNIVERSITY OF WÜRZBURG   (Germany)

^g ACADEMIC MEDICAL CENTER   (Netherlands)

^h PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

ⁱ CENTRE CHIRURGICAL MARIE LANNELONGUE   (France)

^j BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

more..

Author keywords

[No Author keywords available]

Indexed keywords

MUTANT PROTEIN; PROTEIN TYROSINE PHOSPHATASE;

ARTICLE; CAENORHABDITIS ELEGANS; CENTRONUCLEAR MYOPATHY; CHILD; DELETION MUTANT; ENZYME ACTIVITY; GENE MUTATION; GENETIC CONSERVATION; GENETIC COUNSELING; HETEROZYGOTE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOLECULAR CLONING; POINT MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN; SINGLE STRAND CONFORMATION POLYMORPHISM; YEAST;

ALTERNATIVE SPLICING; EXONS; FRAMESHIFT MUTATION; GENE DELETION; GENETIC MARKERS; HUMANS; INFANT, NEWBORN; INTRONS; LINKAGE (GENETICS); MALE; MOLECULAR SEQUENCE DATA; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN-TYROSINE-PHOSPHATASE; SEQUENCE ANALYSIS, DNA; X CHROMOSOME;

CAENORHABDITIS ELEGANS;

EID: 9844265393     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.9.1505     Document Type: Article

References (28)

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