Combination of a novel frameshift mutation (1929delCA) and a recurrent nonsense mutation (W610X) of the LAMB3 gene in a Japanese patient with herlitz junctional epidermolysis bullosa, and their application for prenatal testing [5]

Journal of Investigative Dermatology

Volumn 111, Issue 6, 1998, Pages 1239-1241

  Takizawa, Y ^a   Shimizu, H ^a   Pulkkinen, L ^a   Suzumori, K ^a   Kakinuma, H ^a   Uitto, J ^a   Nishikawa, T ^a  

^a KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

EPIDERMOLYSIS BULLOSA; FRAMESHIFT MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC RECOMBINATION; HUMAN; LETTER; MULTIGENE FAMILY; NONSENSE MUTATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

CODON, NONSENSE; EPIDERMOLYSIS BULLOSA, JUNCTIONAL; FRAMESHIFT MUTATION; HUMANS; JAPAN; LAMININ; MUTATION; PRENATAL DIAGNOSIS;

EID: 0032448381     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.1998.00447.x     Document Type: Letter

References (17)