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Human Mutation|March 1, 2000
A novel homozygous nonsense mutations E135* in the type II 3beta-hydroxysteroid dehydrogenase gene in a girl with salt-losing congenital adrenal hyperplasia. Mutations in brief no. 168. OnlineS Marui, I M Torrealba, A J Russell, et al.
Human Mutation|October 3, 2000
Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemiaG N Hendy, L D'Souza-Li, B Yang, et al.
Human Mutation|October 3, 2000
Allelic imbalance of BRCA1 transcript in the IVS20 12-bp insertion carrierP Kozlowski, K Sobczak, A Jasinska, et al.
Human Mutation|October 3, 2000
Identification and characterization of two novel mutations that produce acute intermittent porphyria: A 3-base deletion (841-843delGGA) and a missense mutation (T35M)A De Siervi, D E Weiss Cádiz, V E Parera, et al.
Human Mutation|November 3, 2000
Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the youngS Ellard
Human Mutation|November 3, 2000
PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian familiesC Bjursell, A Erlandson, M Nordling, et al.
Human Mutation|November 3, 2000
Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlationY Wang, F Taroni, B Garavaglia, et al.
Human Mutation|November 3, 2000
Genetic heterogeneity of glycogen storage disease type Ia in France: a study of 48 patientsP Trioche, J Francoual, J Chalas, et al.
Human Mutation|November 3, 2000
Novel splicing and missense mutations in autosomal dominant polycystic kidney disease 1 (PKD1) gene: expression of mutated genesG Aguiari, S Savelli, M Garbo, et al.
Human Mutation|November 3, 2000
Pharmacogenetics of catechol-O-methyltransferase: frequency of low activity allele in a Ghanaian populationM M Ameyaw, A C Syvänen, I Ulmanen, et al.
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