Identification of p.Glu131Lys Mutation in the IHH Gene in a Korean Patient With Brachydactyly Type A1.
10.3343/alm.2015.35.3.387
- Author:
Mi Ae JANG
1
;
Ok Hwa KIM
;
Sun Wook KIM
;
Chang Seok KI
Author Information
1. Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. changski@skku.edu
- Publication Type:Case Reports ; Letter
- MeSH:
Adult;
Asian Continental Ancestry Group;
Base Sequence;
Brachydactyly/diagnosis/*genetics;
DNA/chemistry/genetics/metabolism;
DNA Mutational Analysis;
Fingers/abnormalities;
Hedgehog Proteins/*genetics;
Humans;
Male;
Pedigree;
Polymorphism, Single Nucleotide;
Republic of Korea;
Toes/abnormalities
- From:Annals of Laboratory Medicine
2015;35(3):387-389
- CountryRepublic of Korea
- Language:English
-
Abstract:
No abstract available.
