How pathogenic is the p.D104N/endostatin polymorphic allele of COL18A1 in Knobloch syndrome? (multiple letters)

Human Mutation

Volumn 25, Issue 3, 2005, Pages 314-315

  Suzuki, Oscar T ^a   Bagatini, Kelly ^a   Sertié, Andréa L ^a   Passos Bueno, Maria Rita ^a   Antonarakis, Stylianos E ^b   Reymond, Alexandre ^b,f   Menzel, Olivier ^b   Bekkeheien, Reidunn C J ^e   Fukai, Naomi ^e   Boye, Eileen ^e   Kosztolanyi, Gyorgy ^c   Aftimos, Salim ^d   Deutsch, Samuel ^b   Scott, Hamish S ^b   Olsen, Bjorn R ^e   Guipponi, Michel ^b  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

^c UNIVERSITY OF PÉCS   (Hungary)

^d STARSHIP CHILDREN S HOSPITAL   (New Zealand)

^e HARVARD MEDICAL SCHOOL   (United States)

^f UNIVERSITY OF LAUSANNE   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

ENDOSTATIN;

ALLELE; AUTOSOMAL RECESSIVE DISORDER; DISEASE PREDISPOSITION; GENE FREQUENCY; GENE MUTATION; GENOTYPE; HETEROZYGOSITY; HUMAN; KNOBLOCH SYNDROME; LETTER; NUCLEOTIDE SEQUENCE; PATHOGENICITY; POLYMORPHIC LOCUS; PRIORITY JOURNAL;

EID: 20144373894     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20139     Document Type: Letter

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