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Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 05/2013, Volume 8, Issue 5, pp. e64045 - e64045
Zinc concentrations in breast milk are considerably higher than those of the maternal serum, to meet the infant's requirements for normal growth and... 
ALKALINE-PHOSPHATASES | SYNAPTIC VESICLES | EPITHELIAL-CELLS | PREMATURE-INFANTS | MULTIDISCIPLINARY SCIENCES | TRANSPORT COMPLEXES | VERTEBRATE CELLS | ACRODERMATITIS-ENTEROPATHICA | CONFERS RESISTANCE | SECRETORY PATHWAY | MAMMARY-GLAND | Metal Metabolism, Inborn Errors - metabolism | Lactation | Exons | Zinc - metabolism | Humans | Breast Feeding | Molecular Sequence Data | Infant | Milk, Human - chemistry | Base Sequence | Cation Transport Proteins - genetics | Female | Ion Transport | B-Lymphocytes - metabolism | Milk, Human - metabolism | Amino Acid Sequence | Cell Line | B-Lymphocytes - cytology | Metal Metabolism, Inborn Errors - genetics | Metal Metabolism, Inborn Errors - pathology | Asian Continental Ancestry Group | Animals | Cations, Divalent | Chickens | Heterozygote | Mutation | Growth Disorders | Zinc in the body | Tryptophan | Genetic aspects | Breast feeding | Neonates | Pediatrics | Breastfeeding & lactation | Epithelial cells | Serine | Infants | Genomes | Food science | Family medical history | Leucine | Dermatitis | Substitutes | Reduction | Missense mutation | Newborn babies | Arginine | Rodents | Life sciences | Mammary gland | Milk | Nutrient deficiency | Congenital diseases | Baldness | Review boards | Secretion | Zinc | Medicine | Babies | Zinc compounds | Womens health | Breast | Diabetes | Alzheimers disease | Breast milk | Index Medicus
Journal Article
Journal of Stroke and Cerebrovascular Diseases, ISSN 1052-3057, 10/2018, Volume 27, Issue 10, pp. 2840 - 2842
Our objective is to reported a Chinese CARASIL patient caused by novel compound heterozygous mutations in . Detailed clinical and neuroimaging examination were... 
HTRA1 | compound heterozygous mutations | Chinese | CARASIL | GENE | PERIPHERAL VASCULAR DISEASE | NEUROSCIENCES | Medical colleges | Medical research | Medicine, Experimental | Genetic aspects | Nucleotide sequencing | Backache | DNA sequencing | Index Medicus
Journal Article
Journal Article
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, ISSN 1552-4825, 02/2018, Volume 176, Issue 2, pp. 421 - 425
We here describe novel compound heterozygous missense variants, NM_133443:c.[400C>T] and NM_133443:[1435G>A], in the glutamic-pyruvic transaminase 2 (GPT2)... 
microcephaly | progressive motor symptoms | GPT2 | GENETICS & HEREDITY | compound heterozygous | IDD | SEQUENCING DATA
Journal Article
Genetics and Molecular Biology, ISSN 1415-4757, 2017, Volume 40, Issue 2, pp. 430 - 435
Journal Article
Journal Article