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American Journal of Human Genetics|January 1, 1991
Immunochemical studies of ferrochelatase protein: characterization of the normal and mutant protein in bovine and human protoporphyriaJ G Straka, H D Hill, J M Krikava, et al.
American Journal of Human Genetics|January 1, 1984
Biosynthesis and maturation of alpha-N-acetylglucosaminidase in normal and Sanfilippo B-fibroblastsK von Figura, A Hasilik, F Steckel, et al.
American Journal of Human Genetics|March 1, 1980
alpha 1-Antitrypsin quantitative and qualitative (Pi phenotyping) characterization in Down syndrome subjects and in their parentsG Guanti, M Di Loreto
American Journal of Human Genetics|June 1, 1997
Behavioral genetics '97: ASHG statement. Recent developments in human behavioral genetics: past accomplishments and future directionsS L Sherman, J C DeFries, I I Gottesman, et al.
American Journal of Human Genetics|June 1, 1997
Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscleN Monnier, V Procaccio, P Stieglitz, et al.
American Journal of Human Genetics|June 1, 1997
Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndromeT Lin, B M Orrison, A M Leahey, et al.
American Journal of Human Genetics|June 1, 1997
Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy numberP E McAndrew, D W Parsons, L R Simard, et al.
American Journal of Human Genetics|June 1, 1997
Haplotype and mutation analysis in Japanese patients with Wilson diseaseM S Nanji, V T Nguyen, J H Kawasoe, et al.
American Journal of Human Genetics|June 1, 1997
Haplotypes of angiotensinogen in essential hypertensionX Jeunemaitre, I Inoue, C Williams, et al.
American Journal of Human Genetics|June 1, 1997
Homozygosity and linkage-disequilibrium mapping of the urofacial (Ochoa) syndrome gene to a 1-cM interval on chromosome 10q23-q24C Y Wang, B Hawkins-Lee, B Ochoa, et al.
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