Spectrum of mutations inMMACHC, allelic expression, and evidence for genotype–phenotype correlations

Author:

Lerner-Ellis Jordan P.,Anastasio Natascia,Liu Junhui,Coelho David,Suormala Terttu,Stucki Martin,Loewy Amanda D.,Gurd Scott,Grundberg Elin,Morel Chantal F.,Watkins David,Baumgartner Matthias R.,Pastinen Tomi,Rosenblatt David S.,Fowler Brian

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference21 articles.

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2. Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuria;Bartholomew;J Pediatr,1988

3. Late-onset cobalamin-C disorder: a challenging diagnosis;Ben-Omran;Am J Med Genet A,2007

4. Gene identification for the cblD defect of vitamin B12 metabolism;Coelho;N Engl J Med,2008

5. Expanded newborn screening using tandem mass spectrometry;Fearing;Adv Pediatr,2003

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