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Academic Journal

Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population.

Subjects: Mutation*; Cystic Fibrosis/Cystic Fibrosis/Cystic Fibrosis/*genetics ; Membrane Proteins/Membrane Proteins/Membrane Proteins/*genetics

  • Source: American journal of human genetics [Am J Hum Genet] 1993 Mar; Vol. 52 (3), pp. 609-15.Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Print

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Academic Journal

Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA), an Italian (CF2522insC), and a Soviet (CF3821delT).

  • Authors : White MB; Laboratory of Viral Carcinogenesis, National Cancer Institute, Frederick Cancer Research and Development Center (FCRDC), Frederick, Maryland.; Krueger LJ

Subjects: Frameshift Mutation*; Cystic Fibrosis/Cystic Fibrosis/Cystic Fibrosis/*genetics ; Membrane Proteins/Membrane Proteins/Membrane Proteins/*genetics

  • Source: Genomics [Genomics] 1991 May; Vol. 10 (1), pp. 266-9.Publisher: Academic Press Country of Publication: United States NLM ID: 8800135 Publication Model: Print Cited Medium:

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Academic Journal

The health care experience of adults with metabolic dysfunction-associated steatohepatitis and influence of PNPLA3: A qualitative study.

  • Authors : Stine JG; Department of Medicine, Division of Gastroenterology and Hepatology, The Pennsylvania State University Health Milton S. Hershey Medical Center, Hershey, Pennsylvania, USA.; Fatty Liver Program, Pennsylvania State Health Milton S. Hershey Medical Center, Hershey, Pennsylvania, USA.

Subjects: Membrane Proteins*/Membrane Proteins*/Membrane Proteins*/genetics ; Lipase*/Lipase*/Lipase*/genetics ; Qualitative Research*

  • Source: Hepatology communications [Hepatol Commun] 2024 May 22; Vol. 8 (6). Date of Electronic Publication: 2024 May 22 (Print Publication: 2024).Publisher: Wolters Kluwer Health, Inc Country of Publication: United States NLM ID: 101695860 Publication Model: eCollection

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Editorial & Opinion

AMBRA1 and loricrin as a test to identify low-risk early-stage melanoma.

Subjects: Melanoma*/Melanoma*/Melanoma*/diagnosis ; Skin Neoplasms*/Skin Neoplasms*/Skin Neoplasms*/diagnosis ; Membrane Proteins*

  • Source: The British journal of dermatology [Br J Dermatol] 2024 Mar 15; Vol. 190 (4), pp. e46.Publisher: Oxford University Press Country of Publication: England NLM ID: 0004041 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Validation of epidermal AMBRA1 and loricrin (AMBLor) as a prognostic biomarker for nonulcerated American Joint Committee on Cancer stage I/II cutaneous melanoma.

  • Authors : Ewen T; Translation and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.; Husain A

Subjects: Melanoma*/Melanoma*/Melanoma*/pathology ; Skin Neoplasms* ; Membrane Proteins*

  • Source: The British journal of dermatology [Br J Dermatol] 2024 Mar 15; Vol. 190 (4), pp. 549-558.Publisher: Oxford University Press Country of Publication: England NLM ID: 0004041 Publication Model: Print Cited Medium: Internet ISSN:

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