Identification of a novel BMPR1A germline mutation in a Korean juvenile polyposis patient without SMAD4 mutation

Clinical Genetics

Volumn 63, Issue 2, 2003, Pages 126-130

  Kim, I J ^a   Park, J H ^a   Kang, H C ^a   Kim, K H ^a   Kim, J H ^a   Ku, J L ^a   Kang, S B ^a   Park, S Y ^b   Lee, J S ^b   Park, Jae Gahb ^a,b  

^a Seoul National University College of Medicine   (South Korea)

^b National Cancer Center   (South Korea)

Author keywords

BMPR1A; Germline; Juvenile polyposis; Mutations; SMAD4

Indexed keywords

BONE MORPHOGENETIC PROTEIN; SMAD4 PROTEIN;

ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; EXON; GENE IDENTIFICATION; GENE MUTATION; GENETIC SCREENING; GERM LINE; HETEROZYGOTE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HISTOPATHOLOGY; HUMAN; HUMAN CELL; JUVENILE POLYP; KOREA; MISSENSE MUTATION; PRIORITY JOURNAL;

ADENOMATOUS POLYPOSIS COLI; ADOLESCENT; BONE MORPHOGENETIC PROTEIN RECEPTORS, TYPE I; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; GERM-LINE MUTATION; HUMANS; KOREA; POLYMORPHISM, GENETIC; PROTEIN-SERINE-THREONINE KINASES; RECEPTORS, GROWTH FACTOR; SEQUENCE ANALYSIS, DNA; SMAD4 PROTEIN; TRANS-ACTIVATORS;

EID: 0042131942     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2003.00008.x     Document Type: Article

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