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American Journal of Human Genetics|November 1, 1988
Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mutationsB T Darras, P Blattner, J F Harper, et al.
American Journal of Human Genetics|September 26, 2017
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain DeficienciesRené G Feichtinger, Monika Oláhová, Yoshihito Kishita, et al.
American Journal of Human Genetics|April 1, 1988
The gene for cystathionine beta-synthase (CBS) maps to the subtelomeric region on human chromosome 21q and to proximal mouse chromosome 17M Münke, J P Kraus, T Ohura, et al.
American Journal of Human Genetics|January 1, 1988
The detection of linkage disequilibrium between closely linked markers: RFLPs at the AI-CIII apolipoprotein genesE A Thompson, S Deeb, D Walker, et al.
American Journal of Human Genetics|January 1, 1988
Identification of more than 500 RFLPs by screening random genomic clonesJ W Schumm, R G Knowlton, J C Braman, et al.
American Journal of Human Genetics|November 1, 1987
DNA restriction-site polymorphisms associated with the alpha 1-antitrypsin geneD W Cox, G D Billingsley, T Mansfield
American Journal of Human Genetics|October 3, 2017
The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVsMaria Nicla Loviglio, Thomas Arbogast, Aia Elise Jønch, et al.
American Journal of Human Genetics|October 1, 1988
The gene encoding the hydrophobic surfactant protein SP-C is located on 8p and identifies an EcoRI RFLPJ H Fisher, P A Emrie, H A Drabkin, et al.
American Journal of Human Genetics|October 1, 1988
Regional localization of chromosome 3-specific DNA fragments by using a hybrid cell deletion mapping panelM J Gerber, H A Drabkin, C Firnhaber, et al.
American Journal of Human Genetics|October 1, 1988
Localization of the gene for X-linked recessive type of retinitis pigmentosa (XLRP) to Xp21 by linkage analysisM A Musarella, A Burghes, L Anson-Cartwright, et al.
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