Presentation is loading. Please wait.

Presentation is loading. Please wait.

Young female with OCA1B. The hair was white at birth

Published byLenard Howard Adams Modified over 5 years ago

Similar presentations

Presentation on theme: "Young female with OCA1B. The hair was white at birth"— Presentation transcript:

1 Young female with OCA1B. The hair was white at birth
Young female with OCA1B. The hair was white at birth. This patient now has golden blond hair, dark eyelashes, blue irides, and white skin that tans with sun exposure. See Color Plate 14. Source: Albinism, The Online Metabolic and Molecular Bases of Inherited Disease Citation: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G. The Online Metabolic and Molecular Bases of Inherited Disease; 2014 Available at: Accessed: December 29, 2017 Copyright © 2017 McGraw-Hill Education. All rights reserved

Download ppt "Young female with OCA1B. The hair was white at birth"

Similar presentations

Metabolism of ganglioside GM2 in GM2 activator-deficient fibroblasts

Metabolism of ganglioside GM2 in GM2 activator-deficient fibroblasts
Progression model of the two types of endometrial carcinoma

Progression model of the two types of endometrial carcinoma
A: Population frequency histogram of urinary debrisoquine/4-hydroxydebrisoquine ratios after debrisoquine administration to 258 individuals in a healthy.

A: Population frequency histogram of urinary debrisoquine/4-hydroxydebrisoquine ratios after debrisoquine administration to 258 individuals in a healthy.
One kindred with two GGM patents

One kindred with two GGM patents
Genomic organization of the human cathepsin K gene

Genomic organization of the human cathepsin K gene
A, Diagnosis of clinical severity (mild, moderate, severe) of hemophilia is based on in vitro coagulant activity as shown. B, Distribution of severe and.

A, Diagnosis of clinical severity (mild, moderate, severe) of hemophilia is based on in vitro coagulant activity as shown. B, Distribution of severe and.
Spectrum of different types of human gene mutations logged in Human Gene Mutation Database as of September 13, 1998 (http://www.hgmd.org). Source: The.

Spectrum of different types of human gene mutations logged in Human Gene Mutation Database as of September 13, 1998 ( Source: The.
Advantages of isolated liver transplantation before kidney failure over combined liver-kidney transplantation afterwards. Oxalate excretion: Black line.

Advantages of isolated liver transplantation before kidney failure over combined liver-kidney transplantation afterwards. Oxalate excretion: Black line.
Patterns of genetic change in neuroblastomas

Patterns of genetic change in neuroblastomas
Morphologic appearance of EH skin. Shown is a semithin section (0

Morphologic appearance of EH skin. Shown is a semithin section (0
Distribution of diagnoses among the nearly 115,000 cases of lymphoid malignancy diagnosed in 2008. There are 5400 cases of acute lymphoid leukemia (ALL),

Distribution of diagnoses among the nearly 115,000 cases of lymphoid malignancy diagnosed in There are 5400 cases of acute lymphoid leukemia (ALL),
Distribution of diagnoses among the nearly 115,000 cases of lymphoid malignancy diagnosed in 2008. There are 5400 cases of acute lymphoid leukemia (ALL),

Distribution of diagnoses among the nearly 115,000 cases of lymphoid malignancy diagnosed in There are 5400 cases of acute lymphoid leukemia (ALL),
IX; formation of sphingolipids, sphingosine is synthesised from L-serine and palmitoyl-CoA. Source: Serine deficiency disorders, The Online Metabolic and.

IX; formation of sphingolipids, sphingosine is synthesised from L-serine and palmitoyl-CoA. Source: Serine deficiency disorders, The Online Metabolic and.
Proposed model for the structure of ABC1 within the plasma membrane (modified from reference202 ). The two symmetric halves consisting of six membrane-spanning.

Proposed model for the structure of ABC1 within the plasma membrane (modified from reference202 ). The two symmetric halves consisting of six membrane-spanning.
Illustration of the origin of tubular cysts

Illustration of the origin of tubular cysts
Light micrographs comparing pycnodysostosis and normal bone

Light micrographs comparing pycnodysostosis and normal bone
The lymphocyte markers that distinguish the various stages of B-cell differentiation are shown. Markers that are expressed on the cell surface are indicated.

The lymphocyte markers that distinguish the various stages of B-cell differentiation are shown. Markers that are expressed on the cell surface are indicated.
Schematic representation of the DTDST protein

Schematic representation of the DTDST protein
Radiographic appearance of intracranial meningioma in NF2

Radiographic appearance of intracranial meningioma in NF2
Agarose gel electrophoresis (A,B,C,D) and two-dimensional nondenaturing polyacrylamide gradient gel electrophoresis (E,F) of plasma from a normolipidemic.

Agarose gel electrophoresis (A,B,C,D) and two-dimensional nondenaturing polyacrylamide gradient gel electrophoresis (E,F) of plasma from a normolipidemic.

Similar presentations

Ads by Google