Mutational analysis of the lysyl hydroxylase 1 gene (PLOD) in six unrelated patients with Ehlers-Danlos syndrome type VI: prenatal exclusion of this disorder in one family.

Human mutation

Volumn 16, Issue 1, 2000, Pages 90-

  Yeowell, H N ^a   Walker, L C ^a   Farmer, B ^a   Heikkinen, J ^a   Myllyla, R ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; PROCOLLAGEN LYSINE 2 OXOGLUTARATE 5 DIOXYGENASE;

ADULT; ALTERNATIVE RNA SPLICING; ARTICLE; CELL CULTURE; EHLERS DANLOS SYNDROME; ENZYMOLOGY; FEMALE; GENETIC TRANSCRIPTION; GENETICS; HUMAN; HYDROLYSIS; INFANT; MALE; METABOLISM; NUCLEOTIDE SEQUENCE; PEDIGREE; POINT MUTATION; PRENATAL DIAGNOSIS;

ADULT; ALTERNATIVE SPLICING; CELLS, CULTURED; DNA MUTATIONAL ANALYSIS; EHLERS-DANLOS SYNDROME; FEMALE; HUMANS; HYDROLYSIS; INFANT; MALE; PEDIGREE; POINT MUTATION; PRENATAL DIAGNOSIS; PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE; RNA, MESSENGER; TRANSCRIPTION, GENETIC;

EID: 0034218797     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/1098-1004(200007)16:1<90::aid-humu19>3.0.co;2-u     Document Type: Article

References (0)