Grebe-type chondrodysplasia: A novel missense mutation in a conserved cysteine of the growth differentiation factor 5

Journal of Bone and Mineral Metabolism

Volumn 26, Issue 6, 2008, Pages 648-652

  Faiyaz Ul Haque, Muhammad ^a   Faqeih, Eissa A ^b   Al Zaidan, Hamad ^a   Al Shammary, Amal ^a   Zaidi, Syed H E ^c  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b KING FAHAD MEDICAL CITY   (Saudi Arabia)

^c UNIVERSITY HEALTH NETWORK   (Canada)

Author keywords

Autosomal recessive; CDMP 1; GDF5; Grebe type chondrodysplasia; Mutation in conserved cysteine

Indexed keywords

GROWTH DIFFERENTIATION FACTOR 5; TRANSFORMING GROWTH FACTOR BETA; CYSTEINE;

ARTICLE; CHILD; CHONDRODYSPLASIA; CONSANGUINITY; FEMALE; GENE SEQUENCE; GENE STRUCTURE; HUMAN; MALE; MISSENSE MUTATION; PEDIGREE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; AMINO ACID SEQUENCE; ANIMAL; CASE REPORT; GENETICS; MOLECULAR GENETICS; MUSCULOSKELETAL SYSTEM MALFORMATION; NUCLEOTIDE SEQUENCE; SEQUENCE ALIGNMENT;

AMINO ACID SEQUENCE; ANIMALS; CHILD; CHILD, PRESCHOOL; CYSTEINE; DNA MUTATIONAL ANALYSIS; FEMALE; GROWTH DIFFERENTIATION FACTOR 5; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUSCULOSKELETAL ABNORMALITIES; MUTATION, MISSENSE; OSTEOCHONDRODYSPLASIAS; PEDIGREE; SEQUENCE ALIGNMENT;

EID: 58149263728     PISSN: 09148779     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00774-008-0853-5     Document Type: Article

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