TGFB1 mutations in four new families with Camurati-Engelmann disease: Confirmation of independently arising LAP-domain-specific mutations [3]

American Journal of Medical Genetics

Volumn 127 A, Issue 1, 2004, Pages 104-107

  Kinoshita, Akira ^b,k,l   Fukumaki, Yasuyuki ^b   Shirahama, Shuya ^c   Miyahara, Akira ^c   Nishimura, Gen ^d   Haga, Nobuhiko ^e   Namba, Atsushi ^f   Ueda, Hitoshi ^g   Hayashi, Hiromi ^h   Ikegawa, Shiro ⁱ   Seidel, Joerg ^j   Niikawa, Norio ^k,l   Yoshiura, Koh Ichiro ^a,k,l  

^a NAGASAKI UNIVERSITY GRADUATE SCHOOL OF BIOMEDICAL SCIENCES   (Japan)

^b KYUSHU UNIVERSITY   (Japan)

^c SRL INC   (Japan)

^d Tokyo Metropol Kiyose Children's H ^*  (Japan)

^e SHIZUOKA CHILDREN'S HOSPITAL   (Japan)

^f HIROSAKI UNIVERSITY   (Japan)

^g RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^h SAPPORO MEDICAL UNIVERSITY   (Japan)

ⁱ RIKEN   (Japan)

^j FRIEDRICH SCHILLER UNIVERSITY JENA   (Germany)

^k NAGASAKI UNIVERSITY   (Japan)

^l JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CYTOKINE; SIGNAL PEPTIDE; TRANSFORMING GROWTH FACTOR BETA1;

AUTOSOMAL DOMINANT DISORDER; BONE DYSPLASIA; BONE MALFORMATION; CAMURATI ENGELMANN SYNDROME; CLINICAL ARTICLE; FAMILY STUDY; GAIT DISORDER; GENE MUTATION; GENOTYPE; HUMAN; HYPEROSTOSIS; LETTER; MUSCLE WEAKNESS; PHENOTYPE; PRIORITY JOURNAL;

CAMURATI-ENGELMANN SYNDROME; HUMANS; POINT MUTATION; TRANSFORMING GROWTH FACTOR BETA; TRANSFORMING GROWTH FACTOR BETA1;

EID: 3142675652     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

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