RMRP Mutations in Japanese Patients with Cartilage-Hair Hypoplasia

American Journal of Medical Genetics

Volumn 123 A, Issue 3, 2003, Pages 253-256

  Nakashima, Eiji ^a   Mabuchi, Akihiko ^a   Kashimada, Kenichi ^b   Onishi, Toshikazu ^b   Zhang, Junwei ^a   Ohashi, Hirofumi ^c,d   Nishimura, Gen ^d   Ikegawa, Shiro ^a,d,e  

^a RIKEN   (Japan)

^b TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^c SAITAMA CHILDREN'S MEDICAL CENTER   (Japan)

^d Japan Skeletal Dysplasia Consortium   (Japan)

^e UNIVERSITY OF TOKYO   (Japan)

Author keywords

Cartilage hair hypoplasia; Ethnic difference; McKusick metaphyseal dysplasia; Metaphyseal chondrodysplasia; Mutation; Polymorphism; RMRP

Indexed keywords

GROWTH HORMONE; RIBONUCLEASE; RNA;

ADOLESCENT; ALLELE; ARTICLE; BASE PAIRING; BONE DISEASE; CARTILAGE HAIR HYPOPLASIA; CARTILAGE HYPOPLASIA; CHONDRODYSPLASIA; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DEVICE; DISEASE CLASSIFICATION; DNA POLYMORPHISM; ETHNIC GROUP; FEMALE; GENE; GENE DUPLICATION; GENE EXPRESSION; GENE IDENTIFICATION; GENE INSERTION; GENE MUTATION; GENE SILENCING; GENETIC ANALYSIS; HUMAN; IMMUNE DEFICIENCY; JAPAN; METAPHYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; RIBONUCLEASE MITOCHONDRIAL RNA PROCESSING GENE; RNA PROCESSING; SCHOOL CHILD; SPECTROSCOPY;

INSERTION SEQUENCES;

EID: 0344464842     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20281     Document Type: Article

References (11)

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