Identification of p.Glu131Lys Mutation in the IHH Gene in a Korean Patient With Brachydactyly Type A1.
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Mi-Ae
MA
Jang
Department of Radiology, Woorisoa Children's Hospital, Seoul, Korea.
Ok-Hwa
OH
Kim
Division of Endocrinology and Metabolism, Department of Medicine, Thyroid Center, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Sun Wook
SW
Kim
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Chang-Seok
CS
Ki
D000328:Adult; D044466:Asian People; D001483:Base Sequence; D059327:Brachydactyly / Q000175:diagnosis / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics / Q000378:metabolism; D004252:DNA Mutational Analysis; D005385:Fingers / Q000002:abnormalities; D053823:Hedgehog Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D056910:Republic of Korea; D014034:Toes / Q000002:abnormalities
D053823:Hedgehog Proteins; C509246:IHH protein, human; D004247:DNA