title: Hypofibrinogenaemia with novel mutations (γ228Leu→Leu and γ229Gly→Glu) at neighbouring codons; allelic phase and expression level.
authors.affiliation: Prof. Stephen Brennan, Molecular Pathology Laboratory, Canterbury Health Laboratories, PO Box 151, Christchurch 8011, New Zealand, Tel.: +64 3 364 0549, Fax: +64 3 364 0545, E-mail: steve.brennan@otago.ac.nz.
authors.forename: Stephen O
authors.initials: SO
authors.lastname: Brennan
authors.forename: Andrew D
authors.initials: AD
authors.lastname: Laurie
authors.forename: Nina
authors.initials: N
authors.lastname: Raju
mesh_terms: D000347:Afibrinogenemia / Q000097:blood / Q000235:genetics*; D019943:Amino Acid Substitution; D003062:Codon; D015241:Fibrinogens, Abnormal / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D015870:Gene Expression; D006579:Heterozygote; D006801:Humans; D008297:Male; D008958:Models, Molecular; D017354:Point Mutation; D011487:Protein Conformation; D021241:Spectrometry, Mass, Electrospray Ionization
chemical_list: D003062:Codon; D015241:Fibrinogens, Abnormal