Genetic linkage between erythrokeratodermia variabilis and Rh locus

The missense mutation G12D in connexin30.3 can cause both erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of Gottron.

American journal of medical genetics. Part A·2009

The molecular spectrum of beta-thalassemia and abnormal hemoglobins in the allochthonous and autochthonous dutch population.

Community genetics·2004

The HLA Dictionary 2001: a summary of HLA-A, -B, -C, -DRB1/3/4/5 and -DQB1 alleles and their association with serologically defined HLA-A, -B, -C, -DR and -DQ antigens.

European journal of immunogenetics : official journal of the British Society for Histocompatibility and Immunogenetics·2002

Human leukocyte antigen-DQ and DR polymorphisms predict rheumatoid arthritis outcome better than DR alone.

Human immunology·2001

Six microsatellite markers on the short arm of chromosome 6 in relation to HLA-DR3 and TNF-308A in systemic lupus erythematosus.

Genes and immunity·2001

The HLA Dictionary 2001: a summary of HLA-A, -B, -C, -DRB1/3/4/5, -DQB1 alleles and their association with serologically defined HLA-A, -B, -C, -DR and -DQ antigens.

Tissue antigens·2001

CRISPR/Cas9-based repair of a heterozygous HNF1A mutation in patient-derived hiPSCs.

Human genetics·2026

TTC14 dysfunction contributing to microcephaly and lissencephaly spectrum features through protein mislocalization and impaired RNA processing.

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The Russian FSHD registry: a first look at the cohort.

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Genetic ancestry of the Mulam ethnic group: admixture from ancient Yellow River, southern native, and Austronesian populations.

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Identification of novel loci regulating circulating melatonin and its causal relationship with hypertension.

Human genetics·2026

α-Thalassemia in Oraons-indigenous tribal population from Jharkhand, India: insights to common deletions.

Human genetics·2026

Newborn screening and biobanking for preventable genetic disorders in Mongolia: A developing country perspective.

Regenerative therapy·2026

Whole-genome resequencing with multidimensional annotation revealed pathogenic networks in sirenomelia.

Italian journal of pediatrics·2026

Human Loss-of-Function ZNRF3 Mutation Impairs Adipose Thermogenesis and Drives Subcutaneous Fat Expansion.

Diabetes·2026

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Frontiers in genetics·2026

The ZBTB16/CUL3/ROC1 ubiquitin ligase drives the degradation of pathogenic pendrin (SLC26A4) protein variants.

Journal of biomedical science·2026

Identification and functional characterization of a SUZ12 frameshift variant in a Chinese family with Imagawa-Matsumoto syndrome.

BMC medical genomics·2026

Related Experiment Videos

Genetic linkage between erythrokeratodermia variabilis and Rh locus

Related Concept Videos

The missense mutation G12D in connexin30.3 can cause both erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of Gottron.

The molecular spectrum of beta-thalassemia and abnormal hemoglobins in the allochthonous and autochthonous dutch population.

The HLA Dictionary 2001: a summary of HLA-A, -B, -C, -DRB1/3/4/5 and -DQB1 alleles and their association with serologically defined HLA-A, -B, -C, -DR and -DQ antigens.

Human leukocyte antigen-DQ and DR polymorphisms predict rheumatoid arthritis outcome better than DR alone.

Six microsatellite markers on the short arm of chromosome 6 in relation to HLA-DR3 and TNF-308A in systemic lupus erythematosus.

The HLA Dictionary 2001: a summary of HLA-A, -B, -C, -DRB1/3/4/5, -DQB1 alleles and their association with serologically defined HLA-A, -B, -C, -DR and -DQ antigens.

CRISPR/Cas9-based repair of a heterozygous HNF1A mutation in patient-derived hiPSCs.

TTC14 dysfunction contributing to microcephaly and lissencephaly spectrum features through protein mislocalization and impaired RNA processing.

The Russian FSHD registry: a first look at the cohort.

Genetic ancestry of the Mulam ethnic group: admixture from ancient Yellow River, southern native, and Austronesian populations.

Identification of novel loci regulating circulating melatonin and its causal relationship with hypertension.

α-Thalassemia in Oraons-indigenous tribal population from Jharkhand, India: insights to common deletions.

Newborn screening and biobanking for preventable genetic disorders in Mongolia: A developing country perspective.

Whole-genome resequencing with multidimensional annotation revealed pathogenic networks in sirenomelia.

Human Loss-of-Function ZNRF3 Mutation Impairs Adipose Thermogenesis and Drives Subcutaneous Fat Expansion.

Integrated genetic identification and molecular dynamics simulations in a novel LOXL3 genetic mutation associated with Stickler syndrome.

The ZBTB16/CUL3/ROC1 ubiquitin ligase drives the degradation of pathogenic pendrin (SLC26A4) protein variants.

Identification and functional characterization of a SUZ12 frameshift variant in a Chinese family with Imagawa-Matsumoto syndrome.

Related Experiment Videos

Genetic linkage between erythrokeratodermia variabilis and Rh locus

Abstract:

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