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UnknownAn inducible mouse model for microvillus inclusion disease reveals a role for myosin Vb in apical and basolateral trafficking.
Not available
S-EPMC4603458 | biostudies-literature
UnknownFibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.
Not available
S-EPMC3272386 | biostudies-literature
UnknownImpaired hepcidin expression in alpha-1-antitrypsin deficiency associated with iron overload and progressive liver disease.
Not available
S-EPMC4599680 | biostudies-literature
UnknownLoss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.
Not available
S-EPMC4840952 | biostudies-literature
UnknownGermline variants in the SEMA4A gene predispose to familial colorectal cancer type X.
Not available
S-EPMC4214414 | biostudies-literature
UnknownAdvanced Microscopy for Liver and Gut Ultrastructural Pathology in Patients with MVID and PFIC Caused by MYO5B Mutations.
Not available
S-EPMC8125609 | biostudies-literature
UnknownA large family with a gain-of-function mutation of complement C3 predisposing to atypical hemolytic uremic syndrome, microhematuria, hypertension and chronic renal failure.
Not available
S-EPMC2723975 | biostudies-literature
UnknownMutations in SPINT2 cause a syndromic form of congenital sodium diarrhea.
Not available
S-EPMC2668003 | biostudies-literature
UnknownDe novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease.
Not available
S-EPMC5022672 | biostudies-literature
UnknownFerroportin disease: a systematic meta-analysis of clinical and molecular findings.
Not available
S-EPMC2956830 | biostudies-literature
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