Clinical and genetic analysis of a Korean patient with X-linked chondrodysplasia punctata: Identification of a novel splicing mutation in the ARSE gene

Annals of Clinical and Laboratory Science

Volumn 43, Issue 1, 2013, Pages 70-75

  Jeon, Ga Won ^a   Kwon, Min Jung ^b   Lee, Sun Joo ^a   Sin, Jong Beom ^a   Ki, Chang Seok ^c  

^a Inje University College of Medicine   (South Korea)

^b School of Medicine   (South Korea)

^c Sungkyunkwan University School of Medicine   (South Korea)

Author keywords

Arylsulfatase E (ARSE) gene mutation; Spinal cord compression; X linked recessive chondrodysplasia punctata

Indexed keywords

ARTICLE; ARYLSULFATASE E GENE; ATLANTOAXIAL DISLOCATION; CASE REPORT; CERVICAL MYELOPATHY; CHONDRODYSPLASIA PUNCTATA; CHROMOSOME ANALYSIS; COMPUTER ASSISTED TOMOGRAPHY; DECOMPRESSION SURGERY; FACE DYSMORPHIA; FAMILY HISTORY; FETUS ECHOGRAPHY; FORAMEN MAGNUM; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; HUMAN; INFANT; KOREA; LAMINECTOMY; MACROCEPHALY; MALE; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SPINAL CORD COMPRESSION;

ADULT; ARYLSULFATASES; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHONDRODYSPLASIA PUNCTATA; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC DISEASES, X-LINKED; HUMANS; INFANT; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PREGNANCY; REPUBLIC OF KOREA; RNA SPLICING;

EID: 84875060504     PISSN: 00917370     EISSN: 15508080     Source Type: Journal    
DOI: None     Document Type: Article

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