Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1.

Human mutation

Volumn 27, Issue 8, 2006, Pages 832-

  Lee, Ming Jen ^a   Su, Yi Ning ^a   You, Huey Ling ^a   Chiou, Shinn Chong ^a   Lin, Li Chu ^a   Yang, Chih Chao ^a   Lee, Wang Chao ^a   Hwu, Wu Liang ^a   Hsieh, Fon Jou ^a   Stephenson, Dennis A ^a   Yu, Chia Li ^a  

^a NATIONAL TAIWAN UNIVERSITY   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CHINA; COHORT ANALYSIS; EXON; FEMALE; GENE DELETION; GENE DOSAGE; GENETICS; HETERODUPLEX ANALYSIS; HETEROZYGOSITY LOSS; HUMAN; INFANT; MALE; MIDDLE AGED; MUTATION; NEUROFIBROMATOSIS; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; RNA SPLICING; TUMOR SUPPRESSOR GENE;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHINA; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENE DELETION; GENE DOSAGE; GENES, NEUROFIBROMATOSIS 1; HETERODUPLEX ANALYSIS; HUMANS; INFANT; LOSS OF HETEROZYGOSITY; MALE; MIDDLE AGED; MUTATION; NEUROFIBROMATOSIS 1; RNA SPLICE SITES;

EID: 33750104517     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9446     Document Type: Article

References (0)